Paediatrics Flashcards

Question

What is kernicterus? How does it present? What are the potential complications?

Answer 1

Brain damage due to excessive bilirubin levels Bilirubin crosses blood-brain barrier, causes damage to brain Less responsive, floppy, drowsy baby with poor feeding Causes cerebral palsy, learning disability and deafness

Answer 2

Congenital condition, section of bile duct is narrowed or absent Results in cholestasis, prevents excretion of conjugated bilirubin Causes persistent neonatal jaundice

Answer 3

Congenital condition, section of bile duct is narrowed or absent Results in cholestasis, prevents excretion of conjugated bilirubin Causes persistent neonatal jaundice

Answer 4

Suspect if persistent neonatal jaundice (>14 days if full-term, >21 days if premature) Diagnose by measuring conjugated and unconjugated bilirubin - high proportion of conjugated bilirubin Management - surgery Kasai portoenterostomy - attach section of small intestine to opening of liver, where bile duct normally attaches

Answer 5

Immediate: Respiratory distress syndrome Hypothermia Hypoglycaemia Poor feeding Apnoea Bradycardia Neonatal jaundice Intraventricular haemorrhage Retinopathy of prematurity Necrotising enterocolitis Immature immune system and infection Long term: Chronic lung disease of prematurity Learning and behavioural difficulties Susceptibility to infections, particularly respiratory tract infections Hearing and visual impairment Cerebral palsy

Answer 6

Can be asymptomatic Tachypnoea Extra noises with breathing - grunting Cyanosis Asymmetrical chest expansion Respiratory distress Hypotension Reduced air entry

Answer 7

Respiratory distress syndrome - prematurity Meconium aspiration syndrome Use of CPAP or ventilation Persistent pulmonary hypertension Spontaneous in neonate with no underlying disorder

Answer 8

Positive transillumination - free air around lung Confirmed with CXR Treatment: Oxygen Aspiration of air with needle and syringe Chest drain if serious respiratory distress

Answer 9

Transient tachypnoea of the newborn (1st 8 hours) Respiratory distress syndrome (surfactant deficiency) Meconium aspiration Pneumothorax Respiratory Infection Chronic lung disease Bronchopulmonary dysplasia

Answer 10

Group B strep E Coli Listeria Klebsiella Staph aureus

Answer 11

Vaginal group B strep colonisation Group B strep sepsis in previous baby Maternal sepsis, chorioamnionitis or fever >38 Prematurity (<37 weeks) Premature rupture of membranes Prolonged rupture of membranes

Answer 12

Altered behaviour or responsiveness Altered muscle tone - floppiness Feeding difficulties Feed intolerance - vomiting, gastric aspirates, abdominal distension Abnormal heart rate - bradycardia or tachycardia Signs of respiratory distress - starting >4 hours after birth Hypoxia - cyanosis, reduced sats Jaundice within 24 hours of birth Apnoea Signs of neonatal encephalopathy Seizures Need for cardio-pulmonary resuscitation Need for mechanical ventilation (especially in a term baby) Persistent pulmonary hypertension Temperature abnormality - <36 or >38 Signs of shock Unexplained excessive bleeding, thrombocytopaenia, abnormal coagulation Oliguria >24 hours after birth Altered glucose haemostasis - hypoglycaemia or hyperglycaemia Metabolic acidosis Local signs of infection - skin, eye

Answer 13

Confirmed or suspected sepsis in mother Signs of shock Seizures Term baby needing mechanical ventilation Respiratory distress >4 hours after birth Suspected or confirmed infection in a co-twin

Answer 14

Transient tachypnoea of the newborn Surfactant deficient lung disease/respiratory distress syndrome Meconium aspiration Haemolytic disease of the newborn Bacterial meningitis Urinary tract infection

Answer 15

FBC CRP Blood cultures If obvious source - relevant swabs/cultures LP if suspicion of meningitis

Answer 16

One risk factor or clinical feature - monitor observations and clinical condition for 12 hours Two or more risk factors or clinical features - start antibiotics One red flag - start antibiotics Take blood cultures before giving antibiotics Antibiotics - IV benzylpenicillin with gentamicin Consider stopping antibiotics if baby clinically well, blood cultures are negative and CRP results are normal If blood cultures positive - antibiotics for 7-10 days, up to 14 if LP positive

Answer 17

Early onset - within first 48-72 hours of life Late onset - >72 hours of life

Answer 18

Dark green, sticky, lumpy faecal material produced during pregnancy Usually released from bowels after birth Can be passed in utero - causing aspiration

Answer 19

Caused by in-utero peristalsis - due to foetal hypoxic stress or vagal stimulation due to cord compression Stimulates release of vasoactive and cytokine substances that activate inflammatory pathways, inhibits effect of surfactant in the lungs Causes airway obstruction, fetal hypoxia, pulmonary inflammation, infection/pneumonitis, surfactant inactivation, persistent pulmonary hypertension

Answer 20

Gestational age >42 weeks Fetal distress - tachycardia/bradycardia Intrapartum hypoxia secondary to placental insufficiency Thick meconium Apgar score <7 Chorioamnioitis +/- prolonged pre-rupture Oligohydramnios In utero growth restriction Maternal hypertension, diabetes, pre-eclampsia, smoking, drug abuse

Answer 21

Tachypnoea Tachycardia Cyanosis Grunting Nasal flaring Recessions - intercostal, supraclavicular, tracheal tug Hypotension

Answer 22

Clinical diagnosis - difficult as overlaps with many other conditions Investigations: CXR Infection markers - FBC, CRP, blood cultures ABG Dual pulse oximetry Echo Cranial US

Answer 23

Increased lung volumes Asymmetrical patchy pulmonary opacities Pleural effusions Pneumothorax or pneumomediastinum Multifocal consolidation – due to chemical pneumoniti

Answer 24

Bilateral asymmetric opacifications Meconium aspiration syndrome in neonate

Answer 25

Observation - for respiratory distress, oxygen saturations Routine care - warming, nutritional support with IV fluids, switch to NG and oral feeds when able Ventilation/oxygen therapy - nasal cannula if respiratory distress, CPAP if less severe, can be intubated and mechanically ventilated if not responding Antibiotics - if clinical suspicion of infection Surfactant - if moderate MAS or pneumothorax present, can carry out lung lavage with surfactant if severe Inhaled nitric oxide - to manage concurrent pulmonary hypertension, investigate for right-to-left shunts Corticosteroids - not recommended

Answer 26

Air leak - pneumothorax or pneumomediastinum, presents with compromised pulmonary or cardiac function Persistent pulmonary hypertension of the neonate - can be result, complication or differential diagnosis for MAS Cerebral palsy - can cause cerebral hypoxia Chronic lung disease Death

Answer 27

Transient tachypnoea of the newborn

Answer 28

Presents in first 8 hours, lasts 1-2 days

Answer 29

Prematurity Caesarean section - fluid not pushed out of lungs by passage through vaginal canal

Answer 30

Observation, supportive care Supplementary oxygen if required to maintain saturations

Answer 31

Jaundice and cholestasis in first few weeks of life - persists >2 weeks Hepatomegaly and splenomegaly Abnormal growth

Answer 32

Unsuccessful anastomosis formation Progressive liver disease Cirrhosis with eventual hepatocellular carcinoma May need liver transplantation in first few weeks of life if management unsuccessful

Answer 33

Occurs in premature neonates (<32 weeks) due to inadequate surfactant and therefore high surface tension within alveoli --> atelectasis Inadequate gaseous exchange - hypoxia, hypercapnia and respiratory distress

Answer 34

Antenatal steroids if suspected or confirmed pre-term labour - increases production of surfactant, reduces incidence and severity of respiratory distress syndrome May need: Intubation and ventilation Endotracheal surfactant - artificial surfactant delivered to lungs via endotracheal tube Continuous positive airway pressure (CPAP) to keep lungs inflated while breathing Supplementary oxygen to maintain sats

Answer 35

Short-term: Pneumothorax Infection Apnoea Intraventricular haemorrhage Pulmonary haemorrhage Necrotising enterocolitis Long-term Chronic lung disease of prematurity Retinopathy of prematurity - more common/severe Neurological, hearing and visual impairment

Answer 36

Absence of breathing in a neonate for a period of >15 seconds often associated with bradycardia and/or desaturation

Answer 37

Apnoea of prematurity - immaturity of respiratory centre in brain, onset during day 1-7 of life Airway obstruction Drugs - opiates, general anaesthetic Sepsis Metabolic - hypoglycaemia, hypothermia, hyperthermia Pain Respiratory - atelectasis, phrenic nerve paralysis (can occur during birth), pneumothorax, aspiration Cardiovascular - cardiac failure CNS - seizures, neuromuscular disorders

Answer 38

Usually resolve spontaneously Gentle tactile stimulation can help If no response and cyanotic may need bag mask ventilation Suction mouth and nostrils is necessary Can use CPAP BLS pathway if doesn't resolve

Answer 39

Core temperature <36.5

Answer 40

Environmental - bare, wet skin exposed to cool environment Disorders which impair thermoregulation - sepsis, drug withdrawal, prematurity Newborns are prone to rapid heat loss and hypothermia due to high surface area to body mass ratio, low subcutaneous fat, immature skin, poorly developed metabolic mechanisms and altered skin blood flow

Answer 41

Rewarming in an incubator or under a radiant warmer Monitoring for hypoglycaemia, hypoxia, apnoea Treatment of underlying conditions e.g. sepsis Prevention: Maintain appropriate environmental temperature - 25-28 degrees room temperature Immediately dry and place in skin-to-skin contact with mother, wear hat If preterm can place in polyethylene bag

Answer 42

Plasma glucose concentration of <2.5mmol/L <3mmol/L in those with suspected hyperinsulinaemia in the first 48 hours

Answer 43

Hypotonia Lethargy Poor feeding or other abnormal feeding behaviours Hypothermia Apnoea Irritability Pallor Tachypnoea Tachycardia or bradycardia Seizures

Answer 44

Signs/symptoms of hypoglycaemia Risk factors for hypoglycaemia Pre-term - born at 34-36+6 weeks

Answer 45

Blood gas analysis is gold standard method Near-patient testing not accurate at low blood glucose levels (<2)

Answer 46

Intrauterine growth restriction in term infants Born at <37 weeks gestation regardless of weight centile Maternal diabetes - both pre-existing and gestational Macrosomic babies - >4.5kg Infants of mothers taking B-blockers in 3rd trimester Hypothermia Hypoxia - prolonged resuscitation or cord pH <7.1

Answer 47

Prevent hypothermia - dry at birth, cover, put a hat on, avoid bathing for first 24 hours, skin-to-skin First feed within first 60 minutes, or hand express colostrum and give to baby Blood glucose monitoring and clinical surveillance Encourage effective ongoing feeding - responsive feeding if baby alert or proactive if sleepy

Answer 48

Pre-feed BM 2-2.5mmol/L and no clinical signs Additional feed, give frequent feeds at least 3 hourly Pre-feed BM 1-1.9 and no clinical signs Involve neonatal doctor 40% buccal glucose 200mg/kg, wait 30-60 minutes and check again, give second dose if needed Continue feeding Pre-feed BM <1 or clinical signs Involve neonatal doctor Investigations for hypoglycaemia IV 10% glucose or IM glucagon followed by IV glucose Recheck 30 minutes later - increase IV glucose or wean off depending on results Continue breastfeeding until too unwell

Answer 49

Caffeine citrate - given to babies <30 weeks gestation within 2 hours of birth until 33 weeks

Answer 50

Failure in the systemic and pulmonary circulation to convert from the antenatal circulation pattern to the normal pattern Pulmonary hypertension is normal for fetus due to high pulmonary vascular resistance - oxygen delivery from placenta not lungs, most of right ventricular output crosses the ductus arteriosus to the aorta so high pressure in pulmonary vessels to prevent blood going to lungs Pulmonary vascular resistance drops at birth - allows blood to circulate through lungs and back to heart When normal cardiopulmonary transition fails to occur it results in persistent pulmonary hypertension - causes extrapulmonary shunting of blood through usually still patient ductus arteriosis and hypoxaemia

Answer 51

Normal vascular anatomy with functional vasoconstriction due to - hypoxia, meconium aspiration, respiratory distress syndrome (good prognosis) Decreased diameter of pulmonary vessels and hypertrophy of vessel walls - post-term, placental insufficiency, NSAID use by mother (poor prognosis) Decreased size of pulmonary vascular bed - pleural effusion, diaphragmatic hernias (poor prognosis) Functional obstruction of pulmonary blood flow - polycythaemia, hyperfibrinogenaemia (good prognosis if reversible)

Answer 52

Diagnosis - Echo ECG Blood gases - high partial pressures of oxygen and CO2 Pre- and post-ductal oxygen saturations - gradient of >10% between pre- and post- Management Oxygen therapy Mechanical ventilation Pulmonary vasodilators - inhaled nitrous oxide, sildenafil, milrinone Steroids Surfactant instillation ECMO Maintain normal temperature, electrolytes, glucose, intravascular volume

Answer 53

Cyanosis Respiratory distress Tachypnoea Tachycardia Grunting Retractions

Answer 54

Usually stops functioning within 1-3 days of life (usually in first 24 hours in term babies) and closes completely in first 2-3 weeks Increasing arterial PaO2 + decreasing prostaglandin levels from the placenta and secretion of bradykinin by the lung interstitium causes circular smooth muscle contraction in the wall of the ductus arteriosus, eventually ischaemia of vessel wall and necrosis --> becomes ligamentum arteriosus

Answer 55

Higher pressure in aorta than pulmonary vessels, blood flows from aorta to pulmonary vessels = left to right shunt Increases pressure in pulmonary vessels causing pulmonary hypertension, right heart strain and right ventricular hypertrophy Also back flow of blood into left side of heart leading to left ventricular hypertrophy Decreased systemic blood flow - reduced blood to brain, GI tract, kidneys

Answer 56

Shortness of breath Difficulty feeding Poor weight gain Lower respiratory tract infections Bounding pulses Wide pulse pressure Hypotension Renal impairment Murmur heard on newborn examination - may not be heard if small patent ductus arteriosus, more significant cause continuous crescendo-decrescendo 'machinery' murmur which continues during second heart sound, making it difficult to hear

Answer 57

CXR - enlarged heart, bilateral lung field haziness associated with pulmonary oedema, air bronchograms Echo with doppler - left to right shunt, changes to heart e.g. right and/or left ventricular hypertrophy

Answer 58

If asymptomatic and no evidence of heart failure - monitored until 1 year old using echo, after 1 year highly unlikely to close spontaneously, need intervention for closure If symptomatic neonatally/evidence of large shunt on ECHO - COX inhibitors e.g. ibuprofen, indomethacin, reduced efficacy with time NIV, mechanical ventilation Don't give steroids with COX inhibitors due to risk of spontaneous intestinal perforation Surgical management - PDA ligation, >3 weeks old due to risk of adverse events before

Answer 59

CNS infection - group B strep, E. coli, herpes simplex encephalitis Birth trauma - subarachnoid or subdural haemorrhages, associated with ventouse extraction/instrumental deliveries Inborn errors of metabolism e.g. pyridoxine deficiency Hypoglycaemia Opiate withdrawal CNS malformation Benign familial neonatal convulsions Cerebral artery infarction

Answer 60

Hypoxia-ischaemia Maternal fetal infection Drug exposure Postnatal sepsis Inflammation Intraventricular haemorrhage

Answer 61

Regular surveillance with cranial ultrasound scanning Administration of anti-epileptic drugs if seizures - phenobarbital and phenytoin Referral to neurosurgical team if needed Long-term neurodevelopmental follow-up and support as necessary

Answer 62

<32 weeks gestation, low birth weight

Answer 63

Retinal blood vessel development starts at 16 weeks gestation, complete by 37-40 weeks Vessel formation stimulated by hypoxia of the retina during pregnancy, when retina is exposed to higher oxygen concentrations the stimulus is removed When hypoxic environment recurs, retina responds by producing excessive blood vessels (neovascularisation) and scar tissue - abnormal blood vessels can regress and leave retina without blood supply, scar tissue can cause retinal detachment

Answer 64

<32 weeks or under 1.5kg should be screened Done at 30-31 weeks gestational age in babies born before 27 weeks or 4-5 weeks old in babies born after 27 weeks Screening by ophthalmologist done every two weeks, can cease once retinal vessels have reached the outer zone of the retina, usually around 36 weeks gestational age

Answer 65

Transpupillary laser photocoagulation to halt and reverse neovascularisation - 1st line Other options - cryotherapy, injections of intravitreal VEGF inhibitors Surgery if retinal detachment

Answer 66

Prematurity or very low birth weight Formula feeding - breastfeeding is protective Intrauterine growth restriction Polycythaemia Exchange transfusion Hypoxia Respiratory distress and assisted ventilation Sepsis Patient ductus arteriosus and other congenital heart disease Antibiotic treatment

Answer 67

Feeding intolerance Vomiting - bile or blood stained Abdominal distension Haematochezia Abdominal tenderness Abdominal oedema Erythema Palpable bowel loops Systemically unwell - letharygy, bradycardia/tachycardia, shock

Answer 68

Abdominal X-ray Distended bowel loops Oedema - thickened bowel wall Intramural gas - pneumatosis intestinalis Pneumoperitoneum - perforation Gas in portal vein Other investigations FBC (anaemia, thrombocytopaenia, leukopaenia/leukocytosis), CRP, capillary blood gas (metabolic acidosis), blood cultures, U&Es (hyponatraemia)

Answer 69

Bell scoring system - based on clinical features and abdominal X-ray Stage 1 - suspected NEC Bowel distension only on AXR Systemically unwell and abdominal symptoms but not severe with blood gas abnormalities etc. Stage 2 - definite NEC Distension, pneumatosis intestinalis on AXR Stage 1 plus metabolic acidosis, thrombocytopaenia, abdominal tenderness, absent bowel signs Stage 3 - advanced NEC Stage II plus pneumoperitoneum on AXR Severe acidosis, electrolyte abnormalities, marked GI bleeding

Answer 70

Prophylactic antenatal steroids Breastfeeding ?Probiotics

Answer 71

Medical management - Bell stage I and II Nil by mouth - withhold oral feeds for 10-14 days, replace with parenteral nutrition NG tube insertion to drain fluid and gas IV antibiotics for 10-14 days Systemic support - ventilatory support, fluid resuscitation, correction of acid-base balance/coagulopathy/thrombocytopaenia Surgical management Indications - perforation, GI obstruction secondary to stricture formation, deterioration despite medical management Most common procedure is intestinal resection with stoma formation, can also do primary anastomosis, stoma formation without resection, clip and drop with resection

Answer 72

Short-term: Bowel perforation Sepsis Death DIC Long-term: Intestinal stricture Short-bowel syndrome Neurodevelopmental disorders NEC recurrence Long-term need for stoma Abscess formation

Answer 73

Low oxygen sats Increased work of breathing Poor feeding and weight gain Crackles and wheezes on chest auscultation Increased susceptibility to infection

Answer 74

Aka bronchopulmonary dysplasia Lung dysfunction in premature babies, typically those born before 28 weeks Causes respiratory distress syndrome and oxygen or intubation and ventilation requirement - persists past 36 weeks

Answer 75

Requirement for oxygen therapy/intubation after 36 weeks gestational age in premature baby CXR changes

Answer 76

Prevention: Give steroids antenatally in suspected/confirmed pre-term labour, <36 weeks Once born use CPAP rather than intubation and ventilation when possible, give caffeine, don't over-oxygenate Management: Sleep study to assess saturations during sleep May be discharged on oxygen - wean during 1st year of life Require RSV protection - monthly palivizumab, prevent bronchiolitis

Answer 77

Face/head: Dysmorphic facial features e.g. Down's Microcephaly/macrocephaly Congenital cataracts, retinal detachment, retinoblastoma Clefts Tongue-tie (ankyloglossia) Shoulders and arms: Erb's palsy Number and morphology of digits Single palmar crease - ?Down's Chest: Pectus excavatum or carinatum Murmurs Abdomen/groin: Diaphragmatic hernia Polycystic kidney disease Inguinal hernia Hypospadia/epispadia Cryptorchidism Fused labia Patency of anus Lower limbs: Developmental dysplasia of the hip Talipes equinovarus Number and morphology of digits Back and spine: Neural tube defects Scoliosis

Answer 78

Congenital condition in which oesophagus ends in blind-ended pouch rather than connecting to the stomach Associated with tracheo-oesophageal fistula - communication between trachea and oesophagus

Answer 79

Choking Excessive drooling Respiratory distress - aspiration pneumonia Cyanotic episodes during feeding Abdominal distension if fistula More common in those with polyhydramnios in 3rd trimester Other congenital abnormalities - vertebral column, anorectal, cardiac, tracheal, renal, limbs

Answer 80

Diagnosis - unable to pass NG tube to stomach, can confirm with CXR Treatment - surgical repair If gap between upper and lower oesophageal segments too wide may need to wait for oesophagus to grow before surgery - G-tube feeding until then

Answer 81

GORD Dysphagia Respiratory tract infections Oesophagitis, Barrett's oesophagus, oesophageal cancer Surgical complications: Oesophageal anastomotic leak Oesophageal anastomotic stricture

Answer 82

Overfeeding Possetting (regurgitation - normal) GORD Pyloric stenosis Obstruction - bilious vomiting is obstruction until proven otherwise

Answer 83

Hypertrophy and narrowing of the pylorus - prevents food travelling from stomach to duodenum (gastric outlet obstruction)

Answer 84

Male gender Family history First born

Answer 85

Age of onset 2-6 weeks Rapidly progressive projectile vomiting soon after feeds without bile Hungry, pale baby with acute weight loss, dehydration, hypochloraemia, hypokalaemia, metabolic alkalosis Can cause constipation, haematemesis Signs while feeding - palpable olive-sized pyloric mass, visible gastric peristalsis

Answer 86

Typical signs during test feed (with NG in situ) - visible gastric peristalsis, pyloric mass Ultrasound - hypertrophy of pyloric muscle, wall thickness >3mm, length >15mm and diameter >11mm Other investigations: Blood gas - hypochloraemic, hypokalaemic, metabolic alkalosis U&Es - deranged due to dehydration

Answer 87

Pre-operative management: Correct underlying metabolic abnormalities and hypovolaemia Stop oral feeding, pass NG tube and aspirate 4 hourly Check blood gases and U&Es regularly Initial rehydration then maintenance fluids Surgical management: Ramstedt pyloromyotomy - after fluid and electrolyte abnormalities corrected Laparoscopic or through supra-umbilical incision Can resume feeding after 6 hours - post-operative vomiting common and isn't necessarily a sign of incomplete myotomy

Answer 88

Pre-operative: Hypovolaemia Electrolyte abnormalities Apnoea - hypoventilation due to metabolic acidosis Post-operative: Wound dehiscence Infection Bleeding Perforation Incomplete myotomy

Answer 89

1. Malrotation +/- volvulus until proven otherwise 2. NEC (Necrotising Enterocolitis) 3. Atresia 4. Hirschsprungs disease (Aganglionic Megacolon) 5. Meconium disease i.e. meconium ileus, meconium plug syndrome

Answer 90

Occurs due to failure of normal sequence of rotation and fixation of the midgut which occurs between the 4th and 12th week of gestation Primitive gut tube develops during week 3-4, divided into foregut, midgut and hindgut. Foregut = oesophagus, stomach, liver, gallbladder, bile ducts, pancreas, proximal duodenum Midgut = distal duodenum, jejunum, ileum, caecum, appendix, ascending colon, proximal 2/3 of transverse colon Hindgut = distal 1/3 of transverse colon, descending colon sigmoid colon and upper anal canal Midgut develops between weeks 6-10, loop herniates through primitive umbilical ring at week 6, rotates 270 degrees anticlockwise around the superior mesenteric artery and returns to the abdominal cavity Large intestine does an additional 180 degree turn anticlockwise Colonic fixation occurs after return to abdomen Commonest abnormality means caecum is close to duodenojejunal flexure which results in an abnormally narrow midgut mesentery which is liable to twist - volvulus Also have fibrous Ladd's bands which run across the duodenum and can constrict it Causes obstruction

Answer 91

Can be asymptomatic if doesn't cause obstruction Usually presents 3-7 days after birth - discharged from hospital then present with bilious vomiting Acute volvulus/obstruction presents with acute bilious vomiting, constipation, abdominal tenderness and distension, dehydration/shock, acidosis Chronic - feeding intolerance, failure to thrive

Answer 92

Plain AXRs can be misleading - barium contrast studies are used for diagnosis Management: Resuscitation - nil by mouth, NG tube, IV fluids Emergency laparotomy to repair - Ladd's procedure

Answer 93

Congenital intestinal motility disorder due to anganglionosis of the distal large intestine Absence of enteric parasympathetic ganglion cells of the myenteric plexus (Auerbach's plexus) in the distal bowel and rectum Normally during fetal development there is craniocaudal migration of neural crest cells during the first trimester, in which parasympathetic ganglion cells migrate from higher in the GI tract to the distal colon Hirschprung's there is failure of migration and a section of the colon is aganglionic - length of affected section varies in length Lack of innervation leads to tonic contraction of the aganglionic - lack of effective peristalsis and failure of the internal anal sphincter Causes functional colonic obstruction and dilation of the proximal healthy colon Genetics: At least 24 genes discovered which could be related Most commonly implicated is receptor tyrosine kinase (RET) gene Also associated with other congenital abnormalities e.g. Down's, neurofibromatosis, Waardenburg syndrome, MEN type II

Answer 94

Short segment - commonest, 80%, only involves rectosigmoid segment Long segment - extends beyond sigmoid colon to splenic flexure/transverse colon, 15-20% Total colonic aganglionosis - 5%, entire colon involved

Answer 95

Family history - most are sporadic but 10% familial Male sex - 4:1 M:F Chromosomal associations - Down's syndrome commonest, also MEN2a and Waardenburg's syndrome

Answer 96

Most present as neonate Severity depends on length of aganglionic segment Typical triad of symptoms in neonate: Failure to pass meconium within first 24-48 hours of life in a term infant Abdominal distension Bilious vomiting Other symptoms Irritability Feeding intolerance History of chronic constipation after birth Faltering growth Lethargy Signs Abdominal distension Faecal mass in left lower quadrant Increased bowel sounds which progressively decrease PR exam - normal patent anus with increased sphincter tone, empty rectal vault, withdrawal of finger leads to blast sign - gush of liquid stool and flatus

Answer 97

Rectal biopsy with acetylcholinesterase staining - absence of colonic ganglion cells Other investigations: AXR - distal intestinal obstruction, air-fluid levels, distended proximal bowel loops, absence of rectal gas

Answer 98

If unwell - IV fluid resuscitation Identify and manage Hirschprung-associated enterocolitis Definitive management Surgical resection of aganglionic segment, pull-through of the proximal healthy bowel down to anal canal with preservation of sphincter function Initially routine colonic irrigation done until surgery can be carried out to wash out intestinal contents and prevent enterocolitis resulting from bacterial overgrowth if there is faecal stasis

Answer 99

Hirschprung's associated enterocolitis Bowel perforation Post-operative: Early - wound infection, pelvic abscess, anastomotic leak Late - enterocolitis, constipation, faecal incontinence, bladder/sexual dysfunction

Answer 100

Inflammation and obstruction of intestine Presents within 2-4 weeks of birth with fever, abdominal distension, diarrhoea (often bloody) and features of shock/sepsis Can lead to toxic megacolon and bowel perforation Management Sepsis 6 bundle IV broad-spectrum antibiotics IV fluid resuscitation Routine colonic irrigation NG bowel decompression Nil-by-mouth

Answer 101

Abdominal wall defect - failure of abdominal contents to return to abdominal cavity after umbilical herniation at 10-12 weeks gestation Peritoneal outpouching forms sac which protrudes through umbilicus, can be mild (small loop) or severe (all abdominal organs) Complications: Immediate - Rupture Hypothermia Trauma to contents during birth Associated with other malformations - cardiac anomalies, neural tube defects, chromosomal abnormalities Post-surgery - Herniation Intestinal dysfunction - can lead to volvulus, obstruction, intestinal necrosis Short bowel syndrome GORD

Answer 102

Can be recognised prenatally but vaginal delivery not contraindicated unless very large and containing most of the liver as can cause dystocia Sac is covered with warm, moist gauze after birth to protect IV fluids and antibiotics Delayed closure to allow for full assessment for other anomalies - may need staged surgeries if large

Answer 103

Congenital abdominal wall defect - abdominal contents extend outside of abdomen through a paraumbilical orifice, usually to right of umbilicus Variable size of hole - can be loops of intestines and other organs such as stomach and liver No covering membrane, usually a smaller defect

Answer 104

Surgical repair - return exposed intestines to abdominal cavity and close hole Can be done immediately or delayed, cover exposed organs with sterile dressings May need staged surgeries Fatal if untreated Risk of necrotising enterocolitis, infections, volvulus

Answer 105

Congenital defect in the diaphragm causing the abdominal contents to protrude into the thorax Diaphragm develops between 4-12 weeks gestation.

Answer 106

Bochdalek - posteriolateral defect Morgagni - anteromedial defect

Answer 107

Detected on antenatal US Usually presents within first 24 hours of life Dyspnoea Respiratory distress Cyanosis Scaphoid abdomen Bowel sounds in thorax Reduced breath sounds on affected side Displaced point of maximal impulse (displaced apex beat)

Answer 108

CXR - mediastinal shift, abdominal contents in chest cavity

Answer 109

Resuscitation with ventilatory support after birth if respiratory distress NG tube for decompression Definitive - surgical repair of hernia Complications: Small bowel obstruction Pulmonary hypoplasia on affected side

Answer 110

Congenital absence or complete closure of a portion of the lumen of the duodenum 30% also have Down's syndrome Polyhydramnios prenatally as fetus unable to swallow amniotic fluid and absorb it in GI tract Presents with bilious or non-bilious vomiting shortly after birth Abdominal distension 'Double-bubble' sign on AXR - distended stomach and duodenum with pylorus separating them

Answer 111

NG tube aspiration IV fluids Surgical correction - duodenoduodenostomy or duodenojejunostomy, can wait 24-48 hours after birth to allow fluid resuscitation etc.

Answer 112

Congenital deafness Congenital cataracts Congenital heart disease (PDA and pulmonary stenosis) Learning disability

Answer 113

Occurs with infection in <28 weeks gestation: Fetal growth restriction Microcephaly, hydrocephalus and learning disability Scars and significant skin changes located in specific dermatomes Limb hypoplasia Cataracts and chorioretinitis If exposed to chickenpox and non-immune - IV varicella immunoglobulins If infection develops >20 weeks, present within 24 hours of rash - oral aciclovir

Answer 114

Fetal growth restriction Microcephaly Hearing loss Vision loss Learning disability Seizures

Answer 115

Intracranial calcification Hydrocephalus Chorioretinitis

Answer 116

Hydrops fetalis Severe fetal anaemia

Answer 117

Microcephaly Fetal growth restriction Other intracranial abnormalities - ventriculomegaly and cerebellar atrophy

Answer 118

Withdrawal symptoms in neonates of mothers who used substances in pregnancy - prescribed and illicit Substances that cause neonatal abstinence syndrome: Opiates Benzodiazepines Methadone Cocaine Amphetamines Nicotine Cannabis Alcohol SSRI antidepressants

Answer 119

Opiates, diazepam, SSRIs and alcohol - withdrawal between 3-72 hours after birth Methadone, other benzodiazepines - withdrawal between 24 hours and 21 days Symptoms: Irritability Hypertonic High-pitched cry Tremors Seizures Sweating Pyrexia Tachypnoea Poor feeding Regurgitation or vomiting Hypoglycaemia Loose stools

Answer 120

Monitoring for withdrawal symptoms of babies at risk Urine sample to test for substances Support in quiet, dim environment with gentle handling and comforting Medical treatment: Oral morphine sulfate for opiate withdrawal Oral phenobarbitone for non-opiate withdrawal Additional considerations: Test for hepatitis B, C and HIV Safeguarding and social service involvement Support mother to stop using substances Check suitability for breastfeeding

Answer 121

Greatest effect in first trimester Can cause miscarriage, small for dates, preterm delivery Foetal alcohol syndrome: Microcephaly Thin upper lip Smooth flat philtrum Short palpebral fissure Learning disability Behavioural difficulties Hearing and vision problems Cerebral palsy

Answer 122

Low birth weight Prematurity Cleft lip/palate Impaired brain development Higher incidence of SIDs Health problems long-term - asthma, otitis media, obesity, hypertension

Answer 123

Macrosomia - birth injuries e.g. shoulder dystocia Neonatal hypoglycaemia Polycythaemia Jaundice Congenital heart disease Cardiomyopathy

Answer 124

Small for gestational age - fetus below 10th centile for their gestational age, based on measurements of weight and abdominal circumference taken via US, can be constitutionally small or due to fetal growth restriction Low birth weight - <2.5kg Fetal growth restriction/intrauterine growth restriction - pathologically small fetus

Answer 125

Placenta-mediated - conditions affecting the transfer of nutrients across the placenta Idiopathic Pre-eclampsia Maternal smoking Maternal alcohol Anaemia Malnutrition Infection Maternal health conditions Non-placenta mediated - fetal conditions Genetic abnormalities Structural abnormalities Fetal infection Errors of metabolism

Answer 126

Oligohydramnios Abnormal dopplers Reduced fetal movements Abnormal CTG

Answer 127

Short-term: Death or stillbirth Birth asphyxia Neonatal hypothermia Neonatal hypoglycaemia Long-term: Cardiovascular disease, especially hypertension T2DM Obesity Mood and behavioural problems

Answer 128

Increased monitoring - growth scans Investigate for causes - BP and urine protein, doppler, fetal anatomy scan, karyotyping, testing for infections Early delivery if static growth to reduce risk of stillbirth - give steroids

Answer 129

Trisomy 21 - three copies of chromosome 21 Mechanisms: Meiotic non-disjunction of the maternal chromosome 21 (95%) Robertsonian translocation of unbalanced chromosomal material, usually between chromosome 14 and 21 (4%) Mosaicism (1%)

Answer 130

Maternal age - >35

Answer 131

Dysmorphic features: Hypotonia Hyperflexibility Oblique palpebral fissues Prominent epicanthic folds Flat nasal bridge Brachycephaly - flat occiput Dysplastic, low-set, small ears Small open mouth with protruding or furrowed tongue High arched palate Short neck with excessive skin at nape of neck Simian palmar crease Short, incurved pinky Sandal toe deformity of feet Congenital heart defects: 50% Complete atrioventricular septal defect - most common Ventricular septal defect Atrial septal defect Neurological disease: Developmental delay and intellectual disability Alzheimer's Respiratory disease: Asthma Obstructive sleep apnoea GI disease: Duodenal atresia Imperforate anus Tracheo-oesophageal fistula Endocrine disease: Hypothyroidism Type 1 diabetes Haematological disease: Immunodeficiency Transient myeloproliferative disorder Polycythaemia Acute megakaryoblastic leukaemia Acute lymphoblastic leukaemia Other: Short stature and obesity Ophthalmological disorders - cataracts, nystagmus, strabismus, glaucoma Orthopaedic disorders - hip dislocation, foot deformities Recurrent acute otitis media Urological abnormalities - hypospadias, cryptorchidism

Answer 132

Antenatal screening: Combined test (11-14 weeks) - nuchal translucency on US (high), beta-HCG (high), pregnancy-associated plasma protein-A (PAPPA) Triple test (14-20 weeks) - beta-HCG, AFP (low), serum oestriol (low) Quadruple test (14-20 weeks) - triple test plus inhibin-A (high) Antenatal testing - high risk from screening CVS (<15 weeks), amniocentesis (15-20 weeks) Non-invasive prenatal testing - blood test from mother to detect fetal DNA

Answer 133

MDT input - OT SLT Physio Dietician Cardiologist - congenital heart disease ENT Audiologist Routine follow-up investigations: Regular thyroid function Echo for cardiac defects Regular audiometry for hearing impairment Regular eye checks

Answer 134

Male has additional X chromosome - 47XXY

Answer 135

Tall Wide hips Gynaecomastia Weak muscles Small testicles Reduced libido Shyness Infertility Subtle learning difficulties - speech and language

Answer 136

Testosterone injections Fertility treatments Breast reduction surgery for cosmetic purposes MDT input - OT, physio

Answer 137

Increased risk of breast cancer, osteoporosis, diabetes, anxiety, depression

Answer 138

Female with single X chromosome - 45 XO

Answer 139

Short stature Webbed neck High arched palate Downward sloping eyes with ptosis Broad chest, wide nipples Cubitus valgus Underdeveloped ovaries with reduced function Late or incomplete puberty Most are infertile

Answer 140

Recurrent otitis media Recurrent UTIs Coarctation of the aorta Hypothyroidism Hyperthyroidism Obesity Diabetes Osteoporosis Learning disabilities

Answer 141

Growth hormone - height Oestrogen and progesterone replacement - establish secondary sex characteristics, regulate menstrual cycle, prevent osteoporosis Fertility treatment Monitoring for associated conditions and complications and treatment as appropriate

Answer 142

Mutation in FMR1 (fragile X messenger ribonucleoprotein 1) gene on the X chromosome X-linked, unlear if it is dominant or recessive Males always affect, variable affect on females If mother is phenotypically normal the affected child may have inherited the X-chromosome from their mother or it may result from a de novo mutation

Answer 143

Intellectual disability Long, narrow face Large ears Large testicles after puberty Hypermobile joints - particularly in the hands ADHD Autism Seizures

Answer 144

MDT involvement to manage symptoms - learning disability, autism, ADHD, seizures

Answer 145

Various genes implicated Normal karyotype Usually autosomal dominant inheritance

Answer 146

Short stature Broad forehead Downward sloping eyes with ptosis Hypertelorism - wide space between eyes Prominent nasolabial folds Low set ears, triangular shaped Webbed neck Widely spaced nipples

Answer 147

Congenital heart disease - pulmonary valve stenosis, hypertrophic cardiomyopathy, ASD Cryptorchidism - infertility Learning disability Coagulation disorders - factor XI deficiency Lymphoedema Increased risk of leukaemia and neuroblastoma

Answer 148

Trisomy 13 - three copies of chromosome 13

Answer 149

Microcephaly Structural eye defects - microphthalmia, cataract, retinal dysplasia/detachment Cleft lip/palate Polydactyly Overlapping fingers Low set ears Rocker-bottom feet Omphalocele Abnormal genitalia Kidney defects Heart defects - ventricular septal defect, patent ductus arteriosus Dextrocardia

Answer 150

90% mortality within first year If survive past first year are typically severely disabled physically and mentally

Answer 151

Trisomy 18 - three copies of chromosome 18

Answer 152

Kidney malformation Structural heart defects - ventricular septal defect, atrial septal defect, patent ductus arteriosus Omphalocele Oesophageal atresia Intellectual disability Microcephaly Prominent occiput Low set, malformed ears Micrognathia - small jaw Cleft lip/palate Ocular hypertelorism Ptosis Rocker bottom feet Webbed toes Cryptorchidism

Answer 153

95% of pregnancies don't result in live birth 50% of live births don't survive first week of life

Answer 154

Autosomal dominant FBN1 gene on chromosome 15 which codes for the protein fibrillin

Answer 155

Tall stature Long neck Long limbs Arachnodactyly - long fingers High arched palate Hypermobility Pectus carinatum or pectus excavatum Downward sloping palpable fissures

Answer 156

Les dislocation Joint dislocation and pain due to hypermobility Scoliosis Pneumothorax GORD Mitral valve prolapse + regurgitation Aortic valve prolapse + regurgitation Aortic aneurysms

Answer 157

Loss of genes on proximal arm of chromosome 15 inherited from father

Answer 158

Hyperphagia - obesity Hypotonia Learning disability Hypogonadism Mental health problems - anxiety Narrow forehead Almond shaped eyes Strabismus Thin upper lip Downturned mouth

Answer 159

Dietician - limit access to food Growth hormone - improve muscle development and body composition MDT input - psychologists/psychiatrists, physio, OT

Answer 160

Loss of function of maternal UBE3A gene on chromosome 15

Answer 161

Delayed development, learning disability Ataxia Fascination with water Happy demeanour Hand flapping Abnormal sleep patterns Epilepsy ADHD Microcephaly Wide mouth with widely spaced teeth

Answer 162

Deletion on one copy of chromosome 7 - usually a random deletion

Answer 163

Broad forehead Starburst eyes Flattened nasal bridge Long philtrum Wide mouth with widely spaced teeth Small chin Sociable personality Mild learning disability Associated conditions: Supravalvular aortic stenosis ADHD Hypertension Hypercalcaemia

Answer 164

Immediately post-birth: Skin-to-skin Clamp cord - delayed clamping Dry baby Keep warm with hat and blanket IM vitamin K - prevent bleeding Initiate feeding (breast or bottle) as soon as baby is alert enough Wait for first bath >24 hours Newborn examination within 72 hours then at 6-8 weeks Blood spot test Newborn hearing test

Answer 165

Sickle cell disease Cystic fibrosis Congenital hypothyroidism Phenylketonuria Medium-chain acyl-coA dehydrogenase deficiency (MCADD) Maple syrup urine disease Isovaleric acidaemia Glutaric aciduria type 1 Homocystin Results take 6-8 weeks

Answer 166

Booking visit - take history and determine risk factors, check rhesus D status 11+2 weeks - 14+1 weeks - US scan for gestational age, screen for Down's, Edward's and Patau's syndrome (combined test) 18 - 20+6 weeks - fetal anomaly US scan (anencephaly, spina bifida, cleft lip, diaphragmatic hernia, gastroschisis, exomphalos, congenital heart disease, renal agenesis, lethal skeletal dysplasia) Quadruple test - second trimester, screen for Down's NIPT - high risk result from combined or quadruple test Diagnostic testing (CVS, amniocentesis) if higher chance screening results

Answer 167

Starts from head and moves downwards: 4 months - support head, keep it in line with body 6 months - sit up (support trunk on pelvis), don't have balance to stay sitting up unsupported 9 months - sit unsupported, start crawling, can maintain a standing position and bounce on legs when supported 12 months - stand and cruise (walk while holding onto furniture) 15 months - walk unaided 18 months - squat and pick things up from floor 2 years - run, kick ball 3 years - climb stairs one foot at a time, stand on one leg for a few seconds, ride a tricycle 4 years - hop, climb and descend stairs like an adult

Answer 168

Early milestones: 8 weeks - fixes eyes on object 30cm away and attempts to follow it, shows preference for face rather than inanimate object 6 months - palmar grasp of objects (wrap thumb and fingers around) 9 months - scissor grasp (squasher between thumb and forefinger) 12 months - pincer grip (holds with tip of thumb and forefinger) 14-18 months - can use spoon to bring food from bowl to mouth Drawing: 12 months - hold crayon and scribble 2 years - copies vertical lines 2.5 years - copies horizontal lines 3 years - copies circles 4 years - copies cross and square 5 years - copies triangle Tower of bricks: 14 months - 2 bricks 18 months - 4 bricks 2 years - 8 bricks 2.5 years - 12 bricks 3 years - 3 block bridge or train 4 years - can build steps Pencil grasp <2 years - palmar supinate grasp (fist grip) 2-3 years - digital pronate grasp 3-4 years - quadrupod grasp or static tripod grasp 5 years - mature tripod grasp Others: 3 years - can thread large beads onto string, can make cuts in side of paper with scissors 4 years - can cut paper in half using scissors

Answer 169

Expressive and receptive Expressive: 3 months - cooing 6 months - noises with consonants (starting with g, b, and p) 9 months - babbles, sounds like talking but no recognisable words 12 months - single words in context 18 months - 5-10 words 2 years - combines two words, >50 total 2.5 years - combines 3-4 words 3 years - basic sentences 4 years - tells stories Receptive: 3 months - recognises familiar voices and gets comfort from them 6 months - responds to tone of voice 9 months - listens to speech 12 months - follows simple instructions 18 months - understands nouns e.g. show me the spoon 2 years - understands verbs e.g. show me what you eat with 2.5 years - understands propositions e.g. put the spoon under the step 3 years - understands adjectives e.g. show me the one which is bigger 4 years - follows complex instructions

Answer 170

6 weeks - smiles 3 months - communicates pleasure 6 months - curious and engaged with people 12 months - engages with others by pointing and handing objects, waves bye bye, claps hands 18 months - imitates activities e.g. using a phone 2 years - extends interest to others beyond parents e.g. waving to strangers, plays next to but not necessarily with other children, usually dry by day 3 years - seek out other children and play with them, bowel control 4 years - has best friend, dry by night, dresses self, imaginative play

Answer 171

Loss of developmental milestones Not smiling by 10 weeks Not being able to hold an object at 5 months Not sitting unsupported 12 months Not walking by 18 months Showing hand preference before 12 months Not knowing 2-6 words by 18 months Not running at 2.5 years No interest in others at 18 months

Answer 172

Developmental delay - delay in any of the four developmental areas (gross motor, fine motor, speech and language, social and emotional) Global delay - delay in two or more of the above areas simultaneously

Answer 173

Neurological Congenital - antenatal vascular event, spina bifida Acquired - hypoxic ischaemic encephalopathy, intraventricular haemorrhage, prolonged hypoglycaemia, traumatic brain injury, stroke, epilepsy Infection Congenital - TORCH (toxoplasmosis, rubella, CMV, HSV, HIV) Meningitis Encephalitis Neuromuscular disorders Duchenne muscular dystrophy Spinal muscular atrophy Hypothyroidism Genetic disorders e.g. Down syndrome Pervasive developmental disorders e.g. Autism Metabolic disorders Hurle syndrome Krabbe's disease PKU Prematurity Idiopathic

Answer 174

Developmental assessment - what can they do/not do and how appropriate is this for their age? Standardised developmental assessments e.g. Griffiths scale of child development of the schedule of growing skills Investigations: FBC and haematinics - iron deficiency, folate/B12 deficiency U&Es - renal failure, hyponatraemia CK - Duchenne TFTs - congenital hypothyroidism LFTs - metabolic disorders Vitamin D Hearing test - isolate speech and language delay Second-line investigations e.g. karyotyping, metabolic screens, MRI, EEG

Answer 175

Before/after pregnancy: MMR vaccine (if haven't already had) During pregnancy: Pertussis 2 months: 6-in-1 - diphtheria, tetanus, pertussis, polio, haemophilus influenzae type B, hepatitis B MenB Rotavirus 3 months: 6-in-1 Rotavirus Pneumococcal 4 months: 6-in-1 MenB Within a month of first birthday: Hib/menC MenB MMR Pneumococcal 2-11 years Flu annually 3 years 4 months 6-in-1 11-13 years - HPV 14 years Tetanus, diphtheria and polio MenACWY

Answer 176

BCG - at birth, born in area with high rates of TB, live with someone with TB, parents or grandparents from somewhere with high rates of TB Additional doses of hepatitis B - mother with hep B, at birth, 4 weeks and 12 months Influenza - 6 months to 17 years with chronic health conditions

Answer 177

BCG - at birth, born in area with high rates of TB, live with someone with TB, parents or grandparents from somewhere with high rates of TB Additional doses of hepatitis B - mother with hep B, at birth, 4 weeks and 12 weeks Influenza - 6 months to 2 years old annually, chronic health condition, injection not nasal

Answer 178

MMR BCG Chickenpox Nasal influenza Rotavirus Contraindicated if: Receiving high dose steroids Receiving immunosuppressive treatment Immunosuppressed Malignancy Acutely unwell with systemic upset

Answer 179

Mechanism of injury not compatible with injury sustained Developmental stage of child not consistent with injury sustained (e.g. non-mobile) Sustained significant injury with little or no explanation Inconsistent history Delayed presentation Recurrent injuries Parents reaction not appropriate to situation - too concerned, aggressive, elusive

Answer 180

Burns and scalds: In locations which would not be expected to come into contact with a hot object - soles of feet, buttocks/back, backs of hands Bilateral, symmetrical Shape of burn e.g. circular for cigarette, sharply delineated borders Bruises: Non-mobile child Shape of bruise - hand, ligature On non-bony parts or face/ears Multiple bruises, clustered bruises Bites: Human appearance Animal - neglect Lacerations/abrasions: Non-mobile child Symetrical Around face, ankles, wrist Fractures: <18 months old Fractures of different ages (especially if no record of seeking medical attention for previous) Metaphyseal corner fractures Occult rib fractures Spiral fractures Humeral fractures Intracranial injuries: Shaken baby syndrome Subconjunctival/retinal haemorrhage Multiple subdural haemorrhages Hypoxic encephalopathy Without adequate explanation Other: Spinal injuries

Answer 181

Bruising: Coagulopathy Birth marks Vasculitic disorders Infection - meningococcal septicaemia, HSP Drug-related - NSAIDs Erythema nodosum Malignancy Fractures: Birth injury - clavicular Infection - osteomyelitis Malignancy Osteogenesis imperfecta Nutritional - vit D deficiency, copper deficiency

Answer 182

Skeletal survey - head/chest, spine/pelvis, upper limbs, lower limbs Repeat at 11-14 days CT head if acute, MRI if non-acute FBC Coagulation screen Bone biochemistry

Answer 183

History of intimate partner violence and abuse - before/during/after pregnancy Substance abuse/mental health conditions in caregivers Excessive crying - shaking Unintended pregnancy Developmental problems

Answer 184

Medical: Unvaccinated Failure to attend appointments Poor compliance with medication Failure to seek appropriate, timely medical advice Nutritional: Faltering growth Obesity Emotional: Delayed development Poor sleep Persistent crying Irritable Apathetic Difficult/violent behaviour Antisocial behaviour Academic failure Depression, self harm Substance abuse Physical: Inadequate hygiene Severe and/or persistent infestations/infections Inappropriate clothing for size and weather Failure to supervise: Frequent A&E attendances Injuries that suggest lack of care - burns, falls Ingestion of harmful substances

Answer 185

Umbrella term for non-progressive, permanent neurological disorders affecting normal movement and posture

Answer 186

Acquired pathology within the developing brain during the prenatal, neonatal or early infant period Impaired movement due to centrally-mediated abnormal muscle tone which most commonly leads to spasticity Prenatal: Maternal infections - toxoplasmosis, rubella, CMV, HSV Trauma during pregnancy Congenital brain malformation Intrapartum: Birth asphyxia Pre-term birth Intraventricular haemorrage Hypoxic-ischaemic brain injury Neonatal: Meningitis Severe neonatal jaundice Head injury

Answer 187

Spastic - hypertonia and reduced function to damaged upper motor neurones Dyskinetic - hypertonia and hypotonia, problems controlling tone causing athetoid movements and oro-motor problems, due to damage to basal ganglia Ataxia - cerebellar damage Mixed - spastic, dyskinetic and/or ataxic features Patterns: Monoplegia - one limb affected Hemiplegia - one side of body affected Diplegia - four limbs affected but mostly legs Quadriplegia - four limbs affected more severely, associated with seizures, speech disturbance etc.

Answer 188

Usually presents with delayed motor milestones: Not sitting by 8 months Not walking by 18 months Hand preference before 12 months Tone abnormalities Abnormal movements - asymmetrical, fidgeting, lack of movement Feeding difficulties - choking, dysphagia Persistent toe walking Problems with coordination, speech or walking Learning difficulties Gait abnormalities - hemiplegic or diplegic, plantar flexion Upper motor neurone signs - increased tone, brisk reflexes, reduced/normal power Non-progressive - no loss of milestones

Answer 189

Learning difficulties Epilepsy Kyphoscoliosis Muscle contractures Hearing and visual impairment GORD Problems with feeding and aspiration Osteopaenia and osteoporosis - especially if non-mobile

Answer 190

Clinical diagnosed MRI can be used, shows - white matter, deep grey matter and basal ganglia matter Imaging only used to exclude other diagnoses

Answer 191

MDT approach Conservative: Physiotherapy Occupational therapy Speech and language therapy Dietician Medical management - symptom management: Hyoscine hydrobromide or glycopyrronium bromide - excess drooling Diazepam - pain Baclofen - hypertonia Botulinum toxin type A injections - spasticity Anti-epileptics Surgery: Hip displacement common Tenotomy to release contractures

Answer 192

Epilepsy - neurological disorder in which person experiences recurring seizures, tendency to have seizures At least 2 unprovoked seizures occurring >24 hours apart One unprovoked seizure and a probability of further seizures similar to the general recurrence risk after two unprovoked seizures (>75%) At least two seizures in a setting of reflex epilepsy Seizure - transient episode of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain

Answer 193

Seizure associated with febrile illness not caused by an infection of the CNS, without previous neonatal seizures or a previous unprovoked seizure and not meeting the criteria for other acute symptomatic seizure, occurring in children aged 6 months to 6 years

Answer 194

Generalised tonic-clonic - loss of consciousness, tonic (tensing) and clonic (spasming) movements, typically tonic then clonic, associated with tongue biting, incontinence, groaning and irregular breathing, post-ictal period Focal - affect hearing, speech, memory and emotions, e.g. hallucinations, memory flashbacks, deja vu Absence - typically affects children, go blank and stare into space then abruptly return to normal Atonic seizures - drop attacks, brief lapses in muscle tone, last <3 minutes, begin in childhood, may indicate Lannox-Gastaut syndrome Myoclonic seizures - sudden brief muscle contractions, usually remain conscious, typically in children as part of juvenile myoclonic epilepsy Infantile spasms (West syndrome) - rare, starts at 6 months old, clusters of full body spasms, poor prognosis Febrile convulsions - seizures during fever, no underlying pathology, 6 months - 6 years

Answer 195

Febrile convulsion: 3% of children in the UK Age 6 months to 5 years Fever >38, usually in first day of fever Tonic-clonic seizure - eye rolling, tongue biting, incontinence Symptoms of infection Simple or complex seizures - <15 minutes or >15 minutes, prolonged post-ictal state >30 minutes - febrile status epilepticus Recurrent seizure in 30% 3% will progress to having epilepsy (more if complex) Infantile spasms (West syndrome): Rare (1 in 4000) Starts at 6 months old Clusters of full body spasms Poor prognosis - 1/3 mortality by age 25, 1/3 seizure free Juvenile myoclonic epilepsy: Age 12-18 Myoclonic or tonic-clonic seizures, brief absence seizures Often during/after waking 40% photosensitive Often don't outgrow, good prognosis with treatment Childhood absence epilepsy: Age 4-10 Frequent absence seizures (100 per day), very brief 90% grow out of seizures Lennox Gastaut syndrome: Age 3-5 Tonic, atonic and atypical absence seizures Associated with learning difficulties Difficult to treat, often continue into adult life

Answer 196

Acute seizure management: A-E Anti-convulsants - IV lorazepam, buccal midazolam, rectal diazepam Febrile seizures of <5 minutes don't need treatment General safety precautions - showers rather than baths, caution swimming, driving Long-term medical management - anti-epileptic drugs Explanation of prognosis to parents and child

Answer 197

Good history of episode - having a video of the episode is most helpful EEG - once confirmed seizure can be used to characterise seizure type and epilepsy syndrome MRI - not indicated in absence or juvenile myoclonic epilepsy Genetic testing? - if aetiology can't be explained, after counselling family

Answer 198

CNS infection e.g. meningitis, encephalitis Syncope Head injury Rigors Post-ictal fever Inborn errors of metabolism Electrolyte disturbance Hypoglycaemia Behavioural Migraine Breath-holding spells

Answer 199

Involuntary episodes during which child holds their breath Cyanotic - when crying, stop breathing, become cyanotic and lose consciousness. Regain consciousness within a minute, can be tired and lethargic after. Reflex anoxic seizures - when child is startled, vagus nerve sends signal to heart to stop it beating, child goes pale, loses consciousness, may have myoclonic jerking, within 30 seconds heart restarts and child regains consciousness. Management: Exclude other pathology Educate and reassure parents - likely to outgrow by age 4-5 Treat iron deficiency anaemia

Answer 200

Common conditions that cause abnormal head shapes in otherwise healthy babies Plagiocephaly - flattening of head on one side, causing asymmetry Brachycephaly - back of head flattened, causing shortening of the head in the sagittal plane More common as advised to place babies on their back to sleep to reduce risk of SIDs

Answer 201

Exclude other conditions e.g. craniosynotosis, congenital muscular torticollis Reassurance Simple measures to avoid resting on flattened area - lay on round side for sleep, supervised tummy time, helmets

Answer 202

Down's syndrome Fragile X syndrome Fetal alcohol syndrome Rett syndrome Metabolic disorders - inborn errors of metabolism

Answer 203

Cerebral palsy Ataxia Myopathy Spina bifida Visual impairment

Answer 204

Dyspraxia Cerebral palsy Muscular dystrophy Visual impairment Congenital ataxia

Answer 205

Social circumstances e.g. exposure to multiple languages Hearing impairment Learning disability Neglect Autism Cerebral palsy

Answer 206

Emotional and social neglect Parenting issues Autism

Answer 207

Subacute sclerosing panencephalitis - progressive brain inflammation caused by infection with measles virus, primary infection then average of 7 year asymptomatic period then degeneration with behaviour change, seizures, blindness, ataxia then death Neuronal ceroid lipofuscinosis - family of neurodegenerative lysosomal storage disorders, most are autosomal recessive, vision loss is first symptom, then seizures, psychological degeneration West disease - infantile spasms Tuberous sclerosis - autosomal dominant, growth of non-cancerous tumours (hamartias/hamartomas) in brain and on other organs e.g. kidneys, heart, liver, lungs, eyes, causes seizures, intellectual disability etc. Werdnig-Hoffman disease (spinal muscular atrophy) - motor neurone disease with anterior horn degeneration, progressive weakness of voluntary muscles, arm, leg and respiratory muscles affected first Hereditary spastic paraplegia - progressive spasticity, upper motor neurone signs

Answer 208

Most picked up on newborn blood spot test Phenylketonuria - autosomal recessive, defect in phenylalanine hydroxylase, which converts phenylalanine to tyrosine, presents at 6 months with developmental delay, seizures, 'musty' odour to sweat and urine Maple syrup urine disease - autosomal recessive, symptoms within 24-48 hours, poor feeding, lethargy, then focal neurological signs, sweet-smelling urine and ear wax G6PDD - X-linked recessive, prolonged neonatal jaundice, haemolytic crises (triggers e.g. fava beans) Galactosaemia - autosomal recessive, impaired galactose metabolism, symptoms within first few days of life, poor feeding, weight gain, vomiting, diarrhoea, hepatocellular damage, lethargy, hypertonia

Answer 209

X-linked recessive - DMD gene which codes for dystrophin protein Duchenne muscular dystrophy - mostly out-of-frame deletions, more severe Becker muscular dystrophy - mostly in-frame deletions, more mild

Answer 210

Symptoms: Progressive weakness - starting proximally and moving distally, lower limbs affected before upper limbs Delayed motor milestones - typically ability to walk independently Waddling gait, clumsy, fall over Faltering growth Fatigue Intellectual impairment e.g. delayed speech milestones Behavioural issues - ADHD, autism, OCD Leg pain Clinical features not apparent until >2 years old Signs: Weakness - proximal and distal leg muscles Calf pseudohypertrophy - accumulation of fat and connective tissue replacing muscle Waddling gait - worse when running Gower's sign - climbs up legs when rising from floor Hyporeflexia or areflexia Pes planus Difficulty or inability to squat

Answer 211

Symptoms become evident at age 2 Usually wheelchair users by age 12 Death usually in second or third decade of life due to cardiac or pulmonary complications

Answer 212

Serum creatinine kinase - screening tool on first presentation (not reliable for those who are already wheelchair users) Definitive diagnosis: Genetic analysis - identify DMD gene mutations Muscle biopsy - analysis of dystrophin protein Other investigations: Electromyography ECG and echo - cardiomyopathy Lung function testing - restrictive lung disease

Answer 213

No curative management - aim to preserve quality of life for as long as possible MDT input Early management: Corticosteroids - prolong ability to walk by 6-24 months, slow progression of respiratory impairment and cardiomyopathy Vitamin D and calcium supplements - enhance bone health Creatinine supplementation Physiotherapy - prevent development of contractures Orthoses - stabilise knee, ankle and foot, prolong ability to walk Later management: Wheelchair Orthopaedic input - orthotics and surgery for contractures/scoliosis Cardiac and respiratory surveillance Advanced planning and palliative care Counselling

Answer 214

Becker's - similar to Duchenne's but less severe, symptoms appear at 8-12 years, wheelchair required 20-30, life expectancy 40-50, dilated cardiomyopathy Myotonic dystrophy - presents in adulthood, progressive muscle weakness, prolonged muscle contractions, cataracts, cardiac arrhythmias Fascioscapulohumeral - presents in childhood with weakness around face, progressing to shoulders and arms Oculopharyngeal - presents in late adulthood with weakness of ocular muscles and pharynx, ptosis, resctricted eye movement, swallowing issues Limb-girdle - teenage years, progressive weakness around hips and shoulders Emery-Dreifuss - childhood, contractures, most commonly in elbows and ankles, progressive weakness and wasting of muscles, starting with upper arms and lower legs

Answer 215

Term newborns typically lose 5-8% of their birth weight during the first few days of life but regain it by the end of the first two weeks Rapid growth from birth to age 1/2 Slower growth from 2 - adolescent growth spurt Can have erratic eating patterns, eat little one day then make up for it by eating more the next day Steady growth throughout preschool and school, tend to grow the same amount each year until major growth spurt By age 3 muscle tone increases and body fat decreases, so look more lean and muscular than babies Pubertal growth spurt due to interaction between gonadal sex steroids (oestradiol/testosterone), GH and insulin-like growth factor 1

Answer 216

Measure weight and length during first year of life at every doctor's visit to make sure growth is proceeding at a steady state Head circumference also routinely measured until 3 years old Measure length in children too young to stand then height in children who can stand WHO growth charts for 0-4 and 2-18 years, plot measurements on chart, compares to other children of the same age and sex, describes optimal growth for healthy, breastfed children Single point on chart not that useful, plot the change over time If in 50th percentile - mean age of children of that height in the normal population

Answer 217

Normally begins between ages of 8-14 Controlled by hypothalamic-pituitary-ovarian axis, hypothalamus released gonadotropin releasing hormone which stimulates release of FSH and LH from anterior pituitary FSH and LH act on the ovaries to stimulate synthesis and release of oestrogen and progesterone and oogenesis First sign is beginning of breast development (thelarche), occurs around 9-10, breast buds appear as small mounds with breast and papillae elevated, continue to increase in size following menarche due to increased fat deposition Pubarche is next sign - growth of hair in the pubic area, initially sparse, light and straight, becomes coarser, thicker and darker 2 years after pubarche hair begins to grow in the axillary area Menarche - usually occurs around 1.5-3 years after thelarche (12.8 areas in Caucasian girls and 4-8 months later in African-American girls), due to increases in FSH and LH

Answer 218

Normally begins at 10-16 GnRH released from hypothalamus, stimulates release of FSH and LH from anterior pituitary FSH and LH act on testicles to stimulate synthesis and release of testosterone Stimulates onset of sperm production First sign is increase in testicular size Increased LH stimulates testosterone synthesis by Leydig cells and increased FSH stimulate sperm production by Sertoli cells Scrotal skin also grows and becomes thinner, darker in colour and starts to hang down from the body, becomes spotted with hair follicles Approximately a year after testicles start to grow, boys can experience their first ejaculation, indicates theoretical capability of procreation, on average reach fertility one year after ejaculation Growth of penis after testicular enlargement - grows in length then width Pubarche - growth of pubic hair at base of penis, start as light, straight and thin, then become darker, curlier and thicker Approximately 2 years later, hair grows on legs, arms, axillae, chest and face Following peak of growth spurt - larynx and vocal cord enlarge, voice deepens

Answer 219

Infancy - mainly dependent on nutrition, largely growth hormone and thyroxine independent Childhood - growth hormone/IGF-1 axis, as well as thyroid hormone, insulin, nutrition Growth spurt during puberty dictated by interaction between gonadal sex steroids (oestradiol/testosterone), growth hormone, insulin-like growth factor I Also role of adrenal androgens, thyroid hormones, leptin and nutrition

Answer 220

Precocious puberty - before 8 in girls and 9 in boys (2 - 2 and a half standard deviations from the mean) Late-onset puberty - no physical changes (breast/testicular development) before the age of 14

Answer 221

True precocious puberty - due to early activation of the HPG axis Causes: Central malformation or damage e.g. hydrocephalus, neurofibromatosis Acquired - post-sepsis, surgery, radiotherapy, trauma, birth anoxia Brain tumours False precocious puberty - gonadotrophin independent, usually presents with isolated development of one pubertal characteristic Causes: Increased adrenal activity - congenital adrenal hyperplasia Exogenous sex steroids Gonadal tumour - ovarian/testicular tumours Hypothyroidism McCune Albright syndrome - polyostotic fibrous dysplasia

Answer 222

Tanner staging Prader orchidometer

Answer 223

Short stature - loss of 2-3 years of typical growth hormone-dependent growth (20cm in females, 30cm in males) Psychological disturbance Early menarche - ill-equipped to manage at young age Safeguarding concerns

Answer 224

Maturational delay - commonly runs in families Gonadal failure - hypergonadotropic hypogonadism (high LH and FSH) XXY, XO, XY/XO variants - Turner's/Klinefelter's Abnormal gonadal development - genetic Damage to gonads e.g. testicular torsion, cancer, infections Hypothalamic pituitary dysfunction - hypogonadotropic hypogonadism (low FSH and LH) Damage to hypothalamus or pituitary e.g. infection, surgery, radiotherapy Genetic e.g. Kallmann syndrome Chronic conditions e.g. IBD, cystic fibrosis Hyperprolactinaemia Metabolic - glycogen storage disorders, galactosaemia

Answer 225

Turner's syndrome Anorexia nervosa Low body weight/athletic lifestyle Autoimmune failure - premature ovarian failure

Answer 226

Failure to thrive = poor physical growth and development in a child Faltering growth = fall in weight across One or more centile spaces if birthweight below 9th centile Two or more centile spaces if birthweight between 9th and 91st centile Three or more centile spaces if birthweight above 91st centile

Answer 227

Inadequate nutritional intake Difficulty feeding - cerebral palsy, cleft lip/palate, pyloric stenosis Malabsorption - cystic fibrosis, coeliac disease, Cow's milk intolerance, chronic diarrhoea, IBD Increased energy requirements - hyperthyroidism, chronic disease, malignancy, chronic infections Inability to process nutrients properly - inborn errors of metabolism, type 1 diabetes

Answer 228

Boys: (mother height + fathers height + 14cm) / 2 Girls: (mothers height + father height – 14cm) / 2

Answer 229

Group of autosomal recessive disorders characterised by impaired cortisol synthesis 90% due to congenital deficiency of 21-hydroxylase enzyme 21-hydroxylase converts progesterone into aldosterone and cortisol Results in low cortisol, low aldosterone, high ACTH, high testosterone

Answer 230

Due to mineralocorticoid deficiency (aldosterone): Hyponatraemia, hyperkalaemia, hypoglycaemia, which cause symptoms of: Poor feeding Vomiting Dehydration Arrhythmias Hypotension Weight loss (more severe form) Due to androgen excess (testosterone): If severe present at birth with virilised (ambiguous) genitalia, enlarged clitoris If more mild: Female - tall, facial hair, absent periods, deep voice, early puberty Male - tall, deep voice, large penis, small testicles, early puberty Due to ACTH excess: Skin hyperpigmentation

Answer 231

ACTH stimulating testing confirms diagnosis Management: Acute - fluid resuscitation, IM hydrocortisone Cortisol replacement - hydrocortisone Aldosterone replacement - fludrocortisone Corrective genital surgery if required

Answer 232

Congenital adrenal hypoplasia - genetic or metabolic causes, presents at birth with disorders of sexual development, hyponatraemia, hyperkalaemia, hypotension Familial glucocorticoid deficiency - hypoglycaemia, hypotension, electrolyte disturbance Selective mineralocorticoid deficiency - hyponatraemia, hyperkalaemia, hypotension Addison's disease - insidious onset weakness, hyperpigmentation, fatigue, dizziness, salt craving Autoimmune polyglandular syndromes 1/2/4 - other autoimmune conditions involved e.g. hypoparathyroidism, diabetes, vitiligo, coeliac disease Secondary causes - steroid withdrawal after prolonged use, hypopituitarism, catastrophic infection or severe illness leading to adrenal necrosis (Waterhouse-Friderichsen syndrome)

Answer 233

Congenital - familial (10%) or sporadic Acquired - tumour, surgery, trauma (including birth trauma), irradiation, infection, autoimmune, hydrocephalus Idiopathic

Answer 234

Most commonly deficient in FSH/LH and GH Newborn: Abnormal genitalia - small penis Hypoglycaemia Prolonged jaundice Poor feeding Excessive urination Infants/older children Abnormal growth/short stature Excessive thirst and urination Poor appetite Nausea Dizziness Obesity Adolescents: Delayed puberty Oligomenorrhoea/amenorrhoea

Answer 235

Replace hormones which are deficient Treat underlying cause e.g. infection, tumour

Answer 236

Using BMI plotted on WHO/RCPCH growth charts appropriate for age and sex Overweight - BMI >85th centile Obese - BMI >95th centile

Answer 237

Imbalance between energy intake and expenditure - unhealthy diet, sedentary lifestyle (MOST COMMON CAUSE) Genetic, socio-economic, family and psychological influences important Pathological causes (much more rare) Hypothyroidism Cushing's disease Medication e.g. steroids, antidepressants, anti-epileptics Genetic syndromes - Prader-Willi syndrome

Answer 238

Social/psychological - bullying, depression, eating disorders, poor academic performance Obesity in adulthood Sleep apnoea T2DM Asthma NAFLD CVD Hypertension Stroke Menstrual abnormalities Orthopaedic complications e.g. arthritis No long term ill-effects if achieve and maintain normal weight during childhood

Answer 239

Metabolic disorder characterised by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion (insulin deficiency), insulin action (insulin resistance) or both

Answer 240

Autoimmune pancreatic beta cell destruction leading to absolute insulin deficiency and persistent hyperglycaemia Primarily emerges in childhood, most common form of DM in <16s Aetiology not entirely clear, genetic component (HLA DR3/4, DQB) with possible environmental trigger - viral e.g. Coxsackie B virus, enterovirus, which leads to T-cell mediated beta cell destruction

Answer 241

25-50% present in DKA - generally unwell, lethargy, nausea, vomiting, abdominal pain, headache, irritability, can progress to confusion, collapse, may also have symptoms of concurrent infection Symptoms of hyperglycaemia (with or without DKA, usually start 1-6 weeks before DKA): Polyuria - can present as secondary enuresis Polydipsia Weight loss Other features: Recurrent infections Excessive tiredness Family history of diabetes/autoimmune disease

Answer 242

Fasting plasma glucose more than or equal to 7 Random plasma glucose more than or equal to 11.1 Single random plasma glucose + symptoms usually sufficient to diagnose Other investigations: FBC, U&Es, laboratory glucose Blood cultures if suspected infection HbA1c TFTs and TPO for associated autoimmune thyroid disease anti-TTG for associated coeliac disease Antibodies for type 1 DM - insulin antibodies, anti-GAD antibodies, islet cell antibodies

Answer 243

Education Lifestyle advice Immunisations - influenza, pneumococcal Self-monitoring of blood glucose (real-time continuous or scanned continuous should be offered) and insulin therapy Target HbA1c 48 or lower, fasting glucose 4-7, after meal glucose 5-9 Sick day rules - don't omit insulin, check blood glucose more frequently, check blood ketones regularly, maintain normal meal pattern and adequate hydration Monitoring for complications: Monitor growth by measuring height and weight and plotting on an appropriate growth chart Regular dental examinations (every 3-6 months) Eye examination every 2 years until 12, then annual diabetes eye screening Feet assessed for diabetic foot problems Annual monitoring for diabetic kidney disease (>12), hypertension (>12) and thyroid disease Screen for psychological and social problems - anxiety, depression eating disorders

Answer 244

Blood glucose levels <3.5mmol/L +/- symptoms of hypoglycaemia

Answer 245

Mild - dizziness, hunger, irritability, anxiety, sweating, palpitations, headache, confusion Moderate - weakness, lethargy, impaired vision, confusion, irrational behaviour Severe - seizures, loss of consciousness, coma

Answer 246

Mild - conscious, orientated, able to swallow 15-20g quick acting CHO - dextrose tabs, glucotabs, glucojuice, pure fruit juice Retest in 10-15 minutes, if <4 repeat for up to 3 cycles Moderate - conscious and able to swallow but confused, disorientated or aggressive If co-operative treat as for mild If uncooperative squeeze glucose gel into mouth If ineffective give 1mg IM glucagon (once only) Retest in 10-15 minutes, if <4 repeat for up to 3 cycles Severe - unconscious, very aggressive or NBM ABC assessment Stop any IV insulin Give IV glucose Or give IM glucagon (once only) Retest in 10 minutes, if <4 repeat Once >4 give 20g long acting CHO, continue regular BM monitoring

Answer 247

Consider lifestyle factors - eating, alcohol, exercise Consider injection technique, injections site problems Reduce insulin dose - 10-20%

Answer 248

Acidosis - blood pH <7.3 or plasma bicarbonate <15mmol/L Ketonaemia - blood ketones >3 Hyperglycaemia (usually but not always) >11 mmol/L

Answer 249

Laboured breathing Kussmaul breathing - deep, sighing Nausea/vomiting Abdominal pain Dehydration - sunken eyes, skin turgor reduced CRT >2 seconds Cool peripheries Tachycardia Tachypnoea Hypotension Ketotic breath Abdominal tenderness Cerebral oedema - headache, irritability, confusion, reduced consciousness, increased ICP (bradycardia, hypotension, papilloedema) Symptoms of underlying illness - infection More long-term symptoms of diabetes - polydipsia, polyuria, weight loss

Answer 250

Much higher risk of cerebral oedema - cautious approach to fluid resuscitation ABC assessment Consider intubation if reduced consciousness High-flow oxygen If signs of shock restoring circulating volume is more important Fluid: If in shock - initial bolus of 20ml/kg 0.9% NaCl over 15 minutes then up to 40ml/kg If not in shock - initial bolus 10ml/kg over 1 hour then calculate deficit based on % dehydration from severity score + maintenance Monitor potassium and add to fluids as needed (+ ECG) Insulin: Delay IV insulin for 1-2 hours after initial IV fluid therapy to reduce cerebral oedema 0.05-0.01 units/kg/hour of soluble insulin Continue regular long acting SC insulin Ongoing management: Strict fluid balance monitoring Monitor BP and GCS Repeat blood glucose, ketones, blood gas and U&Es Oral fluid resumed once ketosis resolving and no nausea/vomiting Transition from IV to SC insulin once child well, drinking and eating and ketones <1 or pH normal Liaise with diabetic team to prevent future episodes

Answer 251

Cerebral oedema - occurs in children/adolescents but not adults, high mortality/morbidity, require regular neurological status examination , symptoms usually occur 4-12 hours after treatment started Rehydrate slowly with isotonic fluids Management - exclude hypo, restrict fluid, mannitol, ventilate, CT Hypokalaemia - risk of life-threatening arrhythmias, monitor K+ and ECG, give K+ if needed Aspiration pneumonia - reduced conscious, insert NG to reduce Hypoglycaemia - include glucose in rehydration fluids as soon as BM <14

Answer 252

Typical symptoms of hyperglycaemia - polydipsia, polyuria, fatigue, weight loss (less common), frequent infections, blurred vision More insidious onset of symptoms - weeks-months Behavioural problems - reduced school performance Impaired growth Strong FHx Obesity From Black/Asian background Do not need insulin or need less than 0.5 units/kg/day after partial remission Evidence of insulin resistance - acanthosis nigricans

Answer 253

Exercise and weight loss Metformin - from diagnosis Target HbA1c <48 Monitor for hypertension, dyslipidaemia, CKD, retinopathy, foot problems, periodonitis May require insulin in some cases

Answer 254

Relatively uncommon in childhood and adolescence More common in girls, prevalence increases with age Majority due to Grave's disease Neonatal thyrotoxicosis due to maternal history of autoimmune hyperthyroidism

Answer 255

Symptoms: Weight loss/failure to thrive Increased appetite Rapid growth in height Sweating Heat intolerance Fatigue Anxiety, restlessness, irritability Diarrhoea Palpitations Warm peripheries Dyspnoea Learning difficulties, behavioural problems - deteriorating school performance Delayed or accelerated puberty - oligo or amenorrhoea Signs: Goitre Fine tremor Hyperreflexia Tachycardia Proximal muscle wasting Hair loss Thyroid eye disease - exophthalmos, ophthalmoplegia, lid retraction, lid lag Pretibial myxoedema

Answer 256

Anti-TPO - Grave's and Hashimoto's Anti-TSH receptor - Grave's Anti-thyroglobulin - Hashimoto's (also sometimes Grave's)

Answer 257

If the mother has Graves’ disease the baby will have TFTs done between day 5-14 to check their thyroid levels

Answer 258

Carbimazole preferred over propylthiouracil in children due to lower risk of side effects Titrate or block and replace - titrate for 2 years then stop to see if they have gone into remission Symptom relief - propranolol Ophthalmology if eye disease Definitive/long-term management Radioiodine - not in <6, those with active eye disease or severe uncontrolled hyperthyroidism Surgery - total thyroidectomy (in <6) Lifelong monitoring and levothyroxine

Answer 259

Usually self-limiting within 1-3 months, might require treatment with propranolol or carbimazole

Answer 260

Minor - rashes, nausea, headaches Agranulocytosis Hepatitis Acute pancreatitis

Answer 261

Presentation: fever, hyperthermia, tachycardia, hypertension leading to high output cardiac failure, GI dysfunction, CNS dysfunction and seizures Treatment: IV fluids, ATD (large doses of propylthiouracil +/- iodide), propranolol (minimise adrenergic effects), hydrocortisone (high risk of adrenal insufficiency), treat precipitating factor (e.g. infection)

Answer 262

Congenital - Thyroid dysgenesis - developmental abnormality, doesn't develop (agenesis) or develops poorly (dysgenesis) Thyroid dyshormogenesis - anatomically normal thyroid, enzymatic defect means unable to produce hormone normally Acquired - rare Hashimoto's

Answer 263

Usually picked up on newborn blood spot screening If not: Prolonged neonatal jaundice Feeding difficulties Lethargy, increased sleeping Constipation Hoarse cry Slow growth and development Large fontanelles Hypotonia Bradycardia Distended abdominal with umbilical hernia Goitre

Answer 264

Sensorineural deafness Chromosomal disorder - Downs, Williams, Turners Autoimmune conditions - coeliac, T1DM

Answer 265

Levothyroxine Regular monitoring of growth, neurodevelopment and thyroid function (especially during first 2 years of life) Can be trialled off levothyroxine at 2-3 years old to decide if lifelong treatment is required

Answer 266

Congenital: Growth hormone 1 (GH1) or growth hormone releasing hormone receptor (GHRHR) gene mutations Empty sella syndrome - pituitary under-developed or damaged Acquired: Infection Trauma Surgery Irradiation

Answer 267

Birth/neonatal: Micropenis Hypoglycaemia Severe jaundice Older infants/children: Poor growth, usually stopping or severely slowing from age 2-3 Short stature Slow development of movement and strength Delayed puberty

Answer 268

Chromosomal disorders - Turner's syndrome, Prader-Willi syndrome Other pituitary hormone deficiencies - hypothyroidism, adrenal insufficiency, gonadotrophin deficiency

Answer 269

Growth hormone stimulation test - give medications which normally stimulate GH release (glucagon, insulin, arginine, clonidine) and measure GH levels

Answer 270

Daily SC GH (somatropin) Treat other associated hormone deficiencies Close monitoring of height and development

Answer 271

NIDSCED Normal genetic short stature Constitutional delay in growth and/or adolescence - short and looks young Intrauterine growth retardation Dysmorphic syndromes e.g. Down's, Turner's Skeletal dysplasias e.g. achondroplasia Chronic systemic disease e.g. IBD, chronic renal failure, cystic fibrosis, severe asthma Endocrine disorders Dire social circumstances - severe psychosocial deprivation

Answer 272

Primary - Addison's disease (usually autoimmune cause) Secondary - inadequate ACTH stimulating adrenal glands, due to pituitary gland dysfunction Tertiary - inadequate CRH release by hypothalamus, usually due to suppression by long-term steroid treatment

Answer 273

Babies: Lethargy Vomiting Poor feeding Hypoglycaemia Jaundice Failure to thrive Older children: Nausea and vomiting Poor weight gain or weight loss Reduced appetite Abdominal pain Muscle weakness or cramps Developmental delay Hyperpigmentation of skin - high ACTH

Answer 274

U&Es - hyponatraemia, hyperkalaemia Blood glucose - hypoglycaemia Cortisol, ACTH, aldosterone, renin Primary: Low cortisol High ACTH Low aldosterone High renin Secondary: Low cortisol Low ACTH Normal aldosterone Normal renin Short synacthen test - ACTH stimulation test Failure to cortisol to rise = Addison's

Answer 275

Steroid replacement titrated to signs, symptoms and electrolytes Hydrocortisone to replace cortisol Fludrocortisone to replace aldosterone Increase dose during acute illness Monitor growth and development, BP, U&Es, glucose, bone profile, vitamin D

Answer 276

Weight gain with growth impairment Other symptoms - hypertension, hirsutism, amenorrhoea, delayed sexual development, virilisation, skin problems (acne, striae, bruising, acanthosis nigricans)

Answer 277

Rare Most common cause - exogenous steroid administration Most common endogenous cause - ACTH-secreting pituitary microadenoma

Answer 278

Exogenous steroid - taper dose Trans-sphenoidal resection of microadenoma Pituitary irradiation

Answer 279

Kallmann's syndrome - reduced sense of smell and hypogonadism, failure to produce gonadotropin-releasing hormone Primary ovarian failure - Turner's syndrome, total body irradiation prior to BM transplant for leukaemia Primary testicular failure - surgery for cryptorchidism, Klinefelter's syndrome, total body irradiation

Answer 280

Neurogenic - decreased circulating levels of ADH Mutations in ADH gene Idiopathic Tumours - pituitary adenomas or craniopharyngiomas Trauma Infections Vascular e.g. Sheehan's syndrome Sarcoidosis Haemachromatosis Nephrogenic - impaired ADH binding or reabsorption Mutations in ADH receptor gene Mutations in aquaporin-2 gene Metabolic - hypercalcaemia, hyperglycaemia, hypokalaemia Drugs - lithium, demeclocycline Chronic renal disease Amyloidosis Post-obstructive uropathy

Answer 281

Excessive urination - >3L/24 hours Excessive thirst Nocturia, eneuresis Dehydration - dry mucous membranes, prolonged CRT, reduced skin turgor Hypotension Dilute urine

Answer 282

24-hour urine collection Bloods - plasma glucose, U&Es, urine specific gravity, simultaneous plasma and urine osmolality Fluid deprivation test - then give desmopressin

Answer 283

Mostly primary polydipsia - don't need investigation or management, restrict drinking Neurogenic - replacement with desmopressin Nephrogenic - drink enough to satisfy thirst, correct metabolic abdnomalities, sometimes high-dose desmopressin

Answer 284

Height <3rd centile Height velocity low for age (and for Tanner Stage) Out-with the mid-parental height range

Answer 285

FHx: Parents' height Parents'/siblings history of height and puberty Consanguinity PMHx: Birth weight Perinatal history Other conditions Medication Current concern: Duration of problem Weight changes Other current symptoms Baseline investigations: FBC ESR U&E LFT Bone profile IGF-1 TSH, fT4 Coeliac Abs Bone age - X-ray Karyotype (girls- when suspicion for Turner)

Answer 286

Epiphyseal plates (growth plates) at the ends of long bones which allow bones to grow in length Made of hyaline cartilage, between epiphysis and metaphysis Once epiphysis and metaphysis fuse during teenage years, the growth plates become the epiphyseal lines Bones grow through officiation of cartilage matrix by osteoblasts Under influence of growth hormone and sex hormones (oestrogen/progesterone) Continue to grow in diameter throughout adulthood in response to stress from increased muscle activity/weight - osteoblast deposition and osteoclast resorption

Answer 287

Fracture patterns - buckle fractures, plastic deformation and greenstick fractures (more bendy, less brittle) Time to healing - femoral fractures heal in 'age in years + 1' weeks, physeal fractures heal in 2-3 weeks (much quicker than adults) Remodelling - increased capacity for remodelling, especially in <8, close to joint, where residual deformity is in plane of joint (rotational deformities do not remodel) Treatment - complications of immobility (DVT, stiffness, osteoporosis, pressure sores) don't occur in children, relies on plaster casts and percutaneous fixation with K-wires (in adults rigid internal fixation used more)

Answer 288

Mechanical alignment of fracture: Closed reduction - manipulation of joint Open reduction - surgery Stability: External casts K wires Intramedullary wires/nails Screws Plates Pain management Step 1 - paracetamol or ibuprofen Step 2 - morphine Remember safeguarding - does the story make sense? Has this happened before?

Answer 289

Codeine and tramadol - unpredictability in metabolism Aspirin (contraindicated in <16) - Reye's syndrome, unless in Kawasaki disease

Answer 290

Nocturnal - wake suddenly from sleep with cramp-like pains, return to sleep with simple measures Simple measures - massage, reassurance, simple analgesia Functionally normal the next day Often bilateral, or changes site on different occasions Relationship to exercise previous day Resolves next day Primary school age Examination normal Investigations normal

Answer 291

Salter-Harris classification - higher grade more likely to disturb growth SALTR Type 1 - Straight across Type 2 - Above Type 3 - BeLow Type 4 - Through Type 5 - CRush Characteristics: Type 1 - separation of growth plate without involvement of metaphysis or epiphysis (most commonly at distal fibular epipysis) Type 2 - across growth plate, small fragment of metaphysis attached to epiphysis (distal radial epiphysis) Type 3 - across growth plate, extension into epiphysis (distal tibial epiphysis, epiphysis of proximal and middle phalanges) Type 4 - fracture line through epiphysis and part of diaphysis (lateral condyle in elbow and distal tibial epiphysis) Type 5 - crush injury, diagnosed due to deformity retrospectively (rare, most common at distal tibial epiphysis)

Answer 292

Salter-Harris I, II, III - usually no problems with growth, no deformity Salter-Harris IV - potential for malunion, formation of bony bridge with disturbance in growth if not anatomically reduced Salter-Harris V - diagnosed retrospectively due to deformity, poor prognosis, bone growth arrest

Answer 293

Torus (buckle) Greenstick Plastic deformity Epiphyseal (Salter-Harris)

Answer 294

Exclusion of underlying pathologies Symmetrical deformity No symptoms, underlying systemic illness or skeletal dysplasia No stiffness on examination (5 Ss) Common normal variants: In/out-toeing Bow legs Flat feet Curly toes

Answer 295

Usually boys 10-15 who are physically active Pain over tibial tuberosity at insertion of patellar ligament May be accompanied by swelling and local tenderness Usually unilateral, can be bilateral Visible or palpable hard and tender lump at the tibial tubersoity Pain exacerbated by physical activity, kneeling and on extension of the knee

Answer 296

Overuse syndrome Stress from running, jumping etc. while there is growth at the epiphyseal plate (at tibial tuberosity) causes patellar tendon. to pull away tiny pieces of the tibia (avulsion fractures), stimulates bone growth which causes enlarged tibial tuberosity Initially bump is tender due to inflammation, but as bone heals and inflammation settles it becomes hard and non-tender

Answer 297

Restrict physical activity Ice NSAIDs (ibuprofen) for symptomatic relief Once symptoms settle - stretching and physio Symptoms usually resolve over time, left with bony lump on knee

Answer 298

Anterior knee pain which may radiate to posterior joint Aggravated by activities such as squatting, going up stairs, sitting for knee flexed for prolonged periods of time May be tender over articular surface of patella Management: Activity modification to avoid precipitating factors Quadriceps strengthening exercises Tends to come and go throughout adolescence and young adulthood

Answer 299

Toddler after acute episode of longitudinal traction of the arm Crying child who refuses to move elbow Pathophysiology - radial head partially slips from enfolding annular ligament Management: Exclude fracture Reduce by supination and pronation of forearm with elbow flexed

Answer 300

Erb's palsy Supernumerary digits Foot deformities (differentiate fixed from postural deformities) Hip examination - developmental dysplasia of the hip Congenital muscular torticolis

Answer 301

0-4 years: Septic arthritis Developmental dysplasia of the hip Transient synovitis 5-10 years: Septic arthritis Transient synovitis Perthe's disease 10-16 years: Septic arthritis Slipped upper femoral epiphysis Juvenile idiopathic arthritis

Answer 302

<3 Fever Waking at night with pain Weight loss Night sweats Fatigue Persistent pain Morning stiffness Swollen or red joint

Answer 303

Bloods - FBC, CRP, ESR X-ray - fractures, SUFE, other bony pathology US - effusion Joint aspiration - septic arthritis MRI - osteomyelitis

Answer 304

<3 years Fracture of soft tissue injury - 'Toddler fracture', sprain/strain, remember NAI Developmental dysplasia of the hip 3-10 years Transient synovitis Fracture or soft-tissue injury - consider stress fracture, NAI Perthe's disease 10-19 years Fracture or soft tissue injury - consider stress fracture, NAI Slipped upper femoral epiphysis Perthe's disease Osgood-Schlatter disease Sever's disease Osteochondritis dissecans Chondrolmalacia patellae Any age: Septic arthritis and osteomyelitis Other infections e.g. discitis Malignancy - primary bone tumours, soft tissue sarcoma, leukaemia, lymphoma Non-malignant haematological disease - sickle cell disease, haemophilia Metabolic disease e.g. Ricket's Inflammatory muscle or joint disease - juvenile idiopathic arthritis and Lyme arthritis Neuromuscular disease - cerebral palsy, spina bifida Muscular dystrophies - Duchenne's, Becker's Primary anatomical abnormality - limb length discrepancy Non-MSK conditions - intra-abdominal pathology (inguinal hernia, appendicitis) and inguinoscrotal disorders (testicular torsion)

Answer 305

History - Duration and progression of limp Trauma? Consider NAI Precipitating factors Associated pain, muscle weakness Red flag features Birth and developmental history Family history Examination - Signs of infection Signs of malignancy - rash, lymphadenopathy Growth MSK - pGALS Investigations - X-ray if trauma, overuse, systemic symptoms If systemic symptoms - FBC, ESR, CRP Joint aspiration - septic arthritis suspected MRI if suggestive of serious condition

Answer 306

<4 years old Night pain Functional disability Postural shift Lasting >4 weeks Limitation of movement due to pain Neurological signs - weakness, sensory loss, neuropathic pain, headaches, bowel/bladder dysfunction, saddle anaesthesia Sudden onset severe, constant and unremitting Systemic symptoms - fever, chills, weight loss, night sweats Morning stiffness >30 minutes Immunocompromised, previous malignancy

Answer 307

Muscular strain Trauma and structural disorders - spondylolysis, spondylolisthesis, IVD herniation, Scheuermann's kyphosis, apophyseal ring fracture Discitis Inflammatory - juvenile idiopathic arthritis, ankylosing spondylitis Neoplasms - benign (osteoid osteoma, osteoblastoma, haemangioma), malignant (Ewing's sarcinoma, lymphoma, neuroblastoma, metastatic disease) Sickle cell disease Pyelonephritis Referred abdominal pain Psychogenic

Answer 308

Congenital Neuromuscular - DMD, cerebral palsy, CMT Adolescent idiopathic Post-traumatic, post-inflammatory, post-radiation Skeletal dysplasia Tumour - benign, malignant, metastatic

Answer 309

Reactive arthritis, including transient synovitis of the hip, Reiter's syndrome, rheumatic fever

Answer 310

Age 3-10 Often within a few weeks of a viral illness Acute or gradual onset Limp Refusal to weight bear Groin/hip pain May have mild low-grade fever Limited range of motion - most commonly abduction affected Otherwise well - no signs of systemic illness

Answer 311

Self-limiting, lasts 7-10 days Bed rest Activity restriction Analgesia - paracetamol and NSAIDs

Answer 312

Acute monoarthritis, most commonly affecting knee Warm, swollen, painful joint Triggered by infection - gastroenteritis, STIs (chlamydia, gonorrhoea) Link with HLA-B27 Associations: Bilateral conjunctivitis Anterior uveitis Circinate balanitis

Answer 313

Rule out septic arthritis - aspirate NSAIDs Steroid injections Systemic steroids? Most resolve and don't recur

Answer 314

Rule out septic arthritis - aspirate NSAIDs Steroid injections Systemic steroids? Most resolve and don't recur

Answer 315

Autoimmune condition triggered by group A beta-haemolytic streptococcal infection (usually tonsillitis)

Answer 316

Fever Joint pain - migratory arthritis affecting large joints, with hot, swollen, painful joints Rash Shortness of breath Chorea Subcutaneous nodules, erythema marginatum Heart involvement - pericarditis, myocarditis, endocarditis

Answer 317

Throat swab Anti-streptococcal antibody titres Echo, ECG, CXR

Answer 318

Treat streptococcal infection - penicillin V NSAIDs Aspirin/steroids Prophylactic Abx - prevent further strep infections Monitoring and management of complications

Answer 319

Arthritis without any other cause, lasting >6 weeks in a patient <16 Subtypes: Systemic JIA Polyarticular JIA Oligoarticular JIA Enthesitis-related arthritis Juvenile psoriatic arthritis

Answer 320

MDT NSAIDs Steroids DMARDs Biologics

Answer 321

Salmon-pink rash High swinging fevers Enlarged lymph nodes Weight loss Joint inflammation and pain Splenomegaly Muscle pain Pleuritis and pericarditis Raised CRP, ESR, platelets, serum ferritin Complication - macrophage activation syndrome, acutely unwell child with DIC, anaemia, thrombocytopaenia, bleeding and non-blanching rash

Answer 322

Idiopathic inflammatory arthritis in 5 joints or more Symmetrical Small joints of hands and feet, large joints such as hips and knees Minimal systemic symptoms, can be mild fever, anaemia, reduced growth

Answer 323

4 joints or less, usually only a single joint Often larger joints, e.g. knee and ankle More frequently in girls <6 Associated with anterior uveitis

Answer 324

Males >6 Inflammation of entheses Associated with HLA-B27 gene Symptoms of seronegative arthritis - psoriasis, IBD, anterior uveitis

Answer 325

Symmetrical polyarthritis affecting small joints or asymmetrical arthritis affecting large joints in lower limb Plaques of psoriasis on skin Pitting of nails Onycholysis Dactylitis Enthesitis

Answer 326

Idiopathic osteonecrosis or avascular necrosis of capital femoral epiphysis of femoral head Fragmentation, reossification, remodelling - femoral head enlarged or flattened

Answer 327

More common in boys 4-12 years, mostly 5-8 years Family history

Answer 328

Pain in the hip or groin Limp - antalgic gait Restricted hip movements Referred pain to knee Stiffness - loss of internal rotation and abduction Muscle spasms Leg length discrepancy No history of trauma

Answer 329

X-ray - bilateral AP pelvic X-ray and 'frog-leg' lateral X-ray MRI can be done if diagnosis unclear

Answer 330

Conservative: Observation Activity limitation Physiotherapy Analgesia - NSAIDs Casting and bracing Surgical: Osteotomy considered - >8, >50% of the femoral head damaged, non-surgical management unsuccessful

Answer 331

Osteoarthritis General joint stiffness and immobility Premature physeal arrest, degenerative arthritis Acetabular dysplasia Leg length discrepancy

Answer 332

More common in boys, typically presents aged 8-15 Obese Vague presenting symptoms Hip, groin, thigh or knee pain Restricted range of hip movement Painful limp Restricted movement in the hip - fixed in internal rotation, restricted internal rotation Weakness and muscle atrophy

Answer 333

Bilateral AP pelvic X-rays, frog-leg lateral X-ray

Answer 334

Options: Internal fixation of the epiphysis with a screw Bone graft epiphysiodesis Spica cast Internal fixation with multiple pins

Answer 335

Chondrolysis Late deformity SCFE in the contralateral hip Osteonecrosis Infection Chronic pain Degenerative arthritis Pin-associated fracture

Answer 336

Can be haematogenous spread, direct inoculation or microorganisms into bone (open fracture, penetrating injury) or direct spread from nearby infection Common causative organisms - staph aureus, strep, enterobacteur

Answer 337

More common in boys and <10 Open bone fracture Orthropaedic surgery Immunocompromised Diabetes Sickle cell anaemia HIV TB Recent chickenpox - scratching introduces S. aureus

Answer 338

Severe, constant pain in affected region - often near metaphyses Refusing to weight bear, limp Low grade pyrexia Pain worse at night Recent trauma/surgery Swelling

Answer 339

X-ray often initial investigation, but can be normal (normal X-ray doesn't exclude osteomyelitis) Definitive diagnosis - MRI Gold standard diagnosis - culture from bone biopsy at debridement Also need blood cultures

Answer 340

Prolonged antibiotics If clinically unwell, limb shows evidence of deterioration or imaging shows progressive bone destruction then may need surgical management - curettage of infected bone

Answer 341

Vitamin D deficiency - lack of light +/- lack of dietary Vit D Calcium deficiency - reduced absorption e.g. coeliac, inflammatory bowel disease Hereditary hypophosphataemic (Vitamin D resistant) - impaired parathyroid hormone dependent proximal renal tubular resorption of phosphate Vitamin D dependent rickets - type 1 defect in renal-1 hydrolase, type 2 end organ unresponsiveness to 1,25 vit D3 Hypophosphatasia

Answer 342

May be asymptomatic Lethargy Bone pain Swollen wrists Bone deformity - valgus or varus deformities, frontal bossing, delayed teeth, Rachitic rosary Poor growth Dental problems Muscle weakness Pathological or abnormal fractures

Answer 343

Incomplete closure of the neural tube within 28 days of conception Risk factors: Maternal folate deficiency Maternal B12 deficiency Sibling with neural tube defect Smoking Diabetes Anti-epileptic drugs

Answer 344

Supplementation with folic acid from 1 month before conception until week 12 of pregnancy If low risk 400 micrograms If high risk 5mg - previous neural tube defect, antiepileptic medication, diabetes, sickle-cell disease

Answer 345

Different locations and severity of defect Anencephaly - severe, absence of a major portion of the brain and skull, usually stillborn or die quickly after birth Encephalocele - sac-like protrusions of brain through skull Hydrancephaly - cerebral hemispheres missing, filled with sacs of CSF, develop hydrocephalus Spina bifida Cystica - includes meningocele and myelomeningocele Meningocele - less severe, herniation of meninges (not spinal cord) through the opening in the spinal canal Myelomeningocele - herniation of meninges and spinal cord, brainstem and cervical cord likely to be affected (Chiari malformation) Occulta - bony abnormality but no herniation of meninges or spinal cord, usually asymptomatic but higher risk of scoliosis/other spinal deformities, 'tethering' of spinal cord

Answer 346

Occulta - usually asymptomatic Can have physical signs at site of lesion - altered skin pigmentation, tuft of hair, asymmetrical gluteal cleft, sacral dimple Cystica: Flaccid weakness of lower limbs Reflexes absent Lack of sensation Muscle atrophy of lower limbs Spine deformity Associated problems - mobility, sensation, bowel and bladder function, hydrocephalus, learning problems

Answer 347

Community ambulators (L3 and below) - walk indoors and outdoors for most activities, may use wheelchair for longer trips Household ambulators (L3 or mid-lumbar) - walk indoors, use wheelchair in community Non-functional ambulators (L1-L3) - walk in physio sessions or with orthotic devises, use a wheelchair for all practical mobility Non-ambultors - always use wheelchair

Answer 348

18-20 week fetal anomaly scan can detect neural tube defects 16-18 weeks - can measure AFP levels, higher in neural tube defects (non-specific) Amniocentesis can differentiate between types Imaging after birth to assess spinal anatomy

Answer 349

MDT approach Often surgical intervention required Management of complications - hydrocephalus (ventriculo-peritoneal shunt), neurogenic bladder (self-catheterisation)

Answer 350

Newborn: Jitteriness Hyperekplexia benign sleep myoclonus Infancy: Breath-holding spells Shuddering attacks Stereotypes Benign paroxysmal torticollis Benign paroxysmal tonic upward gaze Benign paroxysmal vertigo Sleep disorders Self-stimulation Sleep apnoea Repetitive movements - rocking, head banging Sandifer syndrome - spasms associated with reflux Tics Adolescent: Migraine Syncope Sleep disorders Tics Psychogenic crises

Answer 351

Tension headaches Migraines ENT infection Analgesic headache Problems with vision Raised ICP Brain tumours Meningitis Encephalitis Carbon monoxide poisoning

Answer 352

Mild ache across forehead, pain or pressure in a band-like pattern around the head Come on and resolve gradually, no visual changes or pulsating sensations Symmetrical Non-specific symptoms in younger children - quiet, tired, pale Resolve within 30 minutes Triggers - stress, fear, discomfort, skipping meals, dehydration, infection

Answer 353

Reassurance Analgesia Regular meals Avoid dehydration Reduce stress

Answer 354

Unilateral Severe Throbbing Take longer to resolve Associated with - visual aura, photophobia and phonophobia, nausea and vomiting, abdominal pain (abdominal migraines more common in children)

Answer 355

Acute management: Rest, fluids, low-stimulus environment Paracetamol Ibuprofen Sumatriptan Antiemetics e.g. domperidone If having a significant impact on life can use prophylactic treatment: Propranolol - avoid in asthma Pizotifen - causes drowsiness Topiramate - highly teratogenic

Answer 356

Astrocytoma - low and high grade gliomas that develop from glial cells Medulloblastoma - usually inposterior fossa/cerebellumneuroepithelial stem cells Ependymoma - from CSF producing ependymal cells Craniopharyngioma - benign, at base of brain close to pituitary gland Germ cell tumours - from germ cells, usually close to pituitary and pineal gland Choroid plexus tumours - from ependymal cells

Answer 357

Personal or family history of brain tumour, leukaemia, sarcoma, early onset breast cancer Prior therapeutic CNS irradiation Neurofibromatoasis 1 and 2 Tuberous sclerosis 1 and 2 Other familial genetic syndromes - von Hippel-Lindau

Answer 358

Symptoms: Headache - persistent or recurrent, day or night, may disturb sleep Nausea/vomiting - raised ICP Behavioural change - frontal lobe tumours Polyuria/polydipsia - ADH production problems Seizures Altered GCS Delayed milestones, neurodevelopmental delay Signs: Visual symptoms - diplopia, reduced visual acuity/visual fields Motor - abnormal gait/coordination, swallowing difficulties, weakness Delayed growth Delayed, arrested or precocious puberty Increased head circumference - <2

Answer 359

MRI - may need sedation/general anaesthetic If not possible to get MRI can use contrast-enhanced CT

Answer 360

Initial - analgesia, antiemetics, anticonvulsants, steroids (lower ICP), may need shunt for hydrocephalus Surgical resection Radiotherapy Chemotherapy

Answer 361

5-year survival for all brain and spinal tumours - 73% Low grade astrocytoma - 95% High grade astrocytoma - 25%

Answer 362

Produced by choroid plexus - lines ventricles Flows from lateral ventricles to third ventricle via the foramen of Monro, through cerebral aqueduct to the fourth ventricle and into the subarachnoid space through the apertures of Magendie and Luschka Drainage in subarachnoid cisterns, arachnoid granulations protrude into dura mater, drain into dural venous sinuses

Answer 363

Net pressure gradient causing cerebral blood flow to the brain CPP = mean arterial pressure - intracranial pressure or central venous pressure (whichever is highest) Cerebral blood flow = CPP/cerebral vascular resistance Increased = raised ICP Decreased = ischaemia

Answer 364

Congenital causes - Aqueductal stenosis Arachnoid cysts Arnold-Chiari malformation Chromosomal abnormalities Acquired causes - Infective meningitis Obstructing tumour or cyst

Answer 365

Sutures don't fuse until 2 years old - babies will have enlarged and rapidly increasing head circumference Bulging anterior fontanelle Poor feeding and vomiting Poor tone Sleepiness Headache - worse in morning Blurred vision Gait abnormalities Papilloedema

Answer 366

Ventriculoperitoneal shunt - drains CSF into peritoneal cavity Complications: Infection Blockage Excessive drainage Intraventricular haemorrhage during surgery Outgrowing them - need replacing every 2 years as child grows

Answer 367

Newborn - 40-60 1 week to 3 months - 30-50 3 months to 2 years 30-40 2 to 10 years - 14-24 >10 - 12-20

Answer 368

Autosomal recessive Mutations on chromosome 7 in the CT transmembrane conductance regulator (CFTR) gene, most common mutation in Caucasians DF508 CFTR - chloride channel present in numerous epithelial tissues of respiratory tract, pancreas, GI tract, reproductive tract

Answer 369

Respiratory tract - reduces amount of water in secretions, reduced airway surface liquid, impedes mucus clearance, pro-inflammatory, immunocompromise Pancreas - pancreatic insufficiency GI tract - viscous mucus, meconium ileus, cholestasis, distal intestinal obstruction syndrome, CF-related liver disease Reproductive tract - infertility due to congenital absence of vas deferens

Answer 370

Newborn blood spot test screens for CF - measures immunoreactive trypsin levels, raised in CF If presents later - chloride sweat test and genetic investigation indicated

Answer 371

Neonates: Meconium ileus - abdominal distension, delayed passage of meconium, bilious vomiting Failure to thrive Prolonged neonatal jaundice Infancy: Failure to thrive Recurrent chest infections Pancreatic insufficiency - steatorrhoea Childhood: Rectal prolapse Nasal polyps Sinusitis Adolescence: Pancreatic insufficiency - diabetes mellitus Chronic lung disease Distal intestinal obstruction syndrome, gallstones, live cirrhosis Signs: Finger clubbing Nasal polyps Hyperinflated, crepitations Faecal mass Poor growth, delayed puberty Anaemia of chronic disease

Answer 372

Hereditary clubbing Cyanotic heart disease Infective endocarditis Cystic fibrosis Tuberculosis Inflammatory bowel disease Liver cirrhosis

Answer 373

MDT - GP, respiratory, CF nurse, dietician, physiotherapist, occupational therapist, psychologist Airway clearance and chest symptoms: Physio - increase airway clearance Mucolytics and DNase Hypertonic saline Bronchodilators Nourishment and exercise: Physical exercise Pancreatic enzyme supplementation (CREON) Vitamin A, D, E supplements Monitor growth High calorie, high fat diet PEG/NG tube feeding Fertility counselling Surgery: Transplant (lung +/- heart) Airway infections: Sputum cultures Prophylactic flucloxacillin Vaccinations - pneumococcal, influenza, varicella Infections - 2 weeks antibiotics, high doses Treat complications: Diabetes - insulin Pneumothorax

Answer 374

Staphylococcus aureus Haemophilus influenza Klebsiella pneumoniae Escherichia coli Burkhodheria cepacia Pseudomonas aeruginosa

Answer 375

Once colonised difficult to get rid of, develop resistance to multiple antibiotics and forms biofilms Management - nebulised antibiotics (tobramycin), oral ciprofloxacin Keep CF colonised with pseudomonas away from those who aren't

Answer 376

Typically 6 monthly - annual review Sputum culture every time to check for colonisation CXR Pulmonary function tests Screen for diabetes, osteoporosis, vitamin D deficiency, liver failure

Answer 377

Median life expectancy 47 years

Answer 378

URTI Croup Bronchiolitis Pneumonia Acute exacerbation of asthma/viral induced wheeze Pertussis Inhaled foreign body

Answer 379

Asthma Infection - TB, recurrent aspiration GORD Chronic illness - cystic fibrosis, Kartagener syndrome (primary ciliary dyskinesia) Rare - extrinsic compression of trachea/bronchus by enlarged heart, glands or tumour

Answer 380

Acute laryngotracheobronchitis (croup) Acute epiglottitis/bacterial tracheitis Inhaled foreign body Rare - retropharangeal abscess, acute angioneurotic oedema, vascular rings

Answer 381

Acute wheeze caused by a viral infection - inflammation and oedema of small airways in viral illness, triggers smooth muscles to constrict Reduced airflow, causes wheeze

Answer 382

Viral wheeze - only occurs during viral infections, no history of atopy, presents before 3 years Asthma - can be triggered by viral or bacterial infection, other triggers e.g. exercise, cold weather Viral wheeze may increase risk developing of asthma

Answer 383

Evidence of viral illness (fever, cough, coryzal symptoms) for 1-2 days preceding the onset of: Shortness of breath Signs of respiratory distress Widespread expiratory wheeze

Answer 384

Same as acute asthma - Oxygen Bronchodilators - salbutamol, ipratropium bromide, IV magnesium sulphate, aminophylline Steroids

Answer 385

Cough - productive, green sputum High fever Tachypnoea Tachycardia Increased work of breathing Lethargy Confusion Hypotension Bronchial breath sounds Focal coarse crackles Dullness to percussion Cyanosis Reduced saturations

Answer 386

Bacterial: Streptococcus pneumonia - most common bacterial cause Group A strep e.g. strep pyogenes Group B strep - pre-vaccinated, often contracted during birth Staph aureus Haemophilus influenza - pre-vaccinated or unvaccinated Atypical - mycoplasma pneumonia (extra-pulmonary manifestations e.g. erythema multiforme) Viral: RSV - most common Parainfluenza Influenza

Answer 387

Antibiotics - all children with clinical diagnosis of pneumonia should be given antibiotics, difficult to distinguish viral and bacterial Amoxicillin is first choice At home: Manage fever with paracetamol if child distressed Fluids If severe features (sats <92%, increased work of breathing, cyanosis, >38 fever in child aged 3 months or less) - require admission Oxygen to maintain sats >92% IV antibiotics if sepsis or problem with intestinal absorption

Answer 388

History/examination - assess for underlying lung/immune condition FBC - WBC CXR - structural abnormality, scarring from infections Serum immunoglobulins Sweat test - cystic fibrosis HIV test

Answer 389

Inflammation and infection in the bronchioles Usually caused by a virus - RSV is most common cause Other causes - parainfluenza, influenza A, rhinovirus, adenovirus, human metapneumovirus Occurs in <2 year olds, most common in <6 months Small airways so any inflammation/mucus has a significant effect on infants breathing

Answer 390

Incubation period 5 days, coryzal symptoms for 1-3 days, symptoms peak between day 3-5, symptoms last 7-21 days Coryzal symptoms - rhinorrhoea, nasal obstruction and sneezing Low-grade fever Persistent cough Apnoea Feeding difficulty Signs of respiratory distress Dyspnoea Tachypnoea Inspiratory crackles Expiratory wheeze Cyanosis, pallor Hyperinflated chest

Answer 391

Tachypnoea Use of accessory muscles - sternocleidomastoid, abdominal and intercostal muscles Intercostal, subcostal, sternal recessions Nasal flaring Head bobbing Tracheal tug Cyanosis Added noises - stridor, stertor, wheeze, grunting

Answer 392

Bottle fed or breast fed for <2 months Smoke exposure Siblings who attend nursery or school Chronic lung disease of prematurity

Answer 393

Supportive management Ensure adequate intake - oral, NG tube, IV fluids depending on severity (avoid overfeeding) Saline nasal drops and nasal suctioning to clear nasal secretions (obligate nasal breathers) Supplementary oxygen if sats <92% Ventilatory support if required - high-flow oxygen, CPAP, intubation

Answer 394

Immediately if: Apnoea - observed or reported Looks seriously unwell Severe respiratory distress Central cyanosis Consider if: RR >60 Feeding 50-75% of usually volume Clinical dehydration Persistent oxygen saturation <92% on air Lower threshold for hospital admission - chronic lung disease, congenital heart disease, <3 months, premature, immaturity, neuromuscular disorders

Answer 395

Palivizumab - monoclonal antibody, targets RSV Monthly injection given to high risk babies - ex-premature, congenital heart disease

Answer 396

Genetic factors - asthma/atopy in parents or siblings Environmental factors - low birth weight, prematurity, parental smoking Viral bronchiolitis in early life

Answer 397

Cold air Exercise Atmospheric pollution Allergens - dust, pets, foods Drugs - NSAIDs, beta-blockers Viral/bacterial infection Stress/emotions

Answer 398

Episodic viral wheeze – wheezing only in response to viral infection and no interval symptoms Multiple trigger wheeze – wheeze in response to viral infection but also to other triggers such as exposure to aeroallergens and exercise

Answer 399

Episodic symptoms with intermittent exacerbations Diurnal variability - worse at night and early morning Dry cough with wheeze and SOB Typical triggers History of other atopic conditions - eczema, hayfever, food allergies Bilateral widespread 'polyphonic' wheeze Reversibility with bronchodilators

Answer 400

Spirometry, reversibility testing with bronchodilators Direct bronchial challenge with histamine or methacholine Fractional exhaled nitric oxide Peak flow variability - keep diary of peak flow measurements for 2-4 weeks Other: Exercise testing Skin prick testing for allergens CXR - baseline

Answer 401

1. Short-acting beta-2 agonist - all symptomatic patients 2. Inhaled corticosteroid - if using SABA >3 per week, have asthma symptoms >3 per week, woken at night by asthma symptoms >1 per week 3. Consider adding leukotriene receptor antagonist, if this is ineffective stop and add LABA with ICS 4. Increase dose ICS 5. Consider adding leukotriene receptor antagonist (if not already started) or theophylline 6. Refer to specialist

Answer 402

1. SABA 2. Add low dose ICS or leukotriene antagonist 3. Add ICS or leukotriene (whichever they haven't been started on already) 4. Refer to specialist

Answer 403

Same as adults 1. SABA 2. Add low dose ICS 3. Add LABA - continue if good response 4. Increase dose ICS, consider leukotriene receptor antagonist, oral theophylline or LAMA 5. Increase dose ICS, consider additional treatments from step 4 6. Oral steroids

Answer 404

Steroids: Potential for growth suppression - dose-dependent, may slightly reduce growth velocity and cause a small reduction in final adult height of up to 1cm Oral thrush Adrenal suppression if long-term high dose SABA/LAMA: Tremor Headache Palpitations Hypokalaemia Theophylline: Overdose - vomiting, agitation, tachycardia, hyperglycaemia

Answer 405

Without a spacer: Remove cap Shake inhaler Sit or stand up straight Lift chin Fully exhale Tight seal around inhaler between lips Take a steady breath in whilst pressing the canister Hold breath for as long as comfortably possible (at least 10 seconds) Wait 30 seconds before giving further dose Rinse mouth after using steroid inhaler With spaces: Same but spray dose into spacer and take steady breaths in and out 5 times until mist is fully inhaled

Answer 406

Progressively worsening shortness of breath Signs of respiratory distress Tachycardia Widespread expiratory wheeze on auscultation Reduced air entry. on auscultation Silent chest - late sign

Answer 407

Moderate acute: Able to talk in sentences SpO2 ≥92% PEF ≥50% best or predicted Heart rate - ≤140/min in children aged 1–5 years, ≤125/min in children >5 years Respiratory rate - ≤40/min in children aged 1–5 years, ≤30/min in children >5 years Acute severe: Can't complete sentences in one breath or too breathless to talk or feed SpO2 <92% PEF 33-50% best or predicted Heart rate >140/min in children aged 1–5 years, >125/min in children >5 years Respiratory rate >40/min in children aged 1–5 years, >30/min in children >5 years Life-threatening asthma: Any one of the following in child with severe asthma - Exhaustion Hypotension Cyanosis Silent chest Poor respiratory effort Confusion PEF <33% best or predicted SpO2 <92%

Answer 408

Supplementary oxygen if required (sats <94% or increased work of breathing) Mild: Regular salbutamol inhalers via a spacer (4-6 puffs every 4 hours) Moderate to severe - step up approach: 1. Salbutamol inhaler via spacer - start with 10 puffs every 2 hours 2. Nebulised salbutamol (SABA) (every 20-30 minutes) 3. Nebulised ipratropium bromide (SAMA) (every 20-30 minutes) 4. Corticosteroids - oral prednisolone 5. IV salbutamol 6. IV magnesium sulfate 7. Consider intubation/ventilation Involve anaesthetist/ICU early

Answer 409

Stable on 3-4 hourly bronchodilators PEF should be >75% of best or predicted SpO2 >94% Inhaler technique assessed/taught Written asthma management plan given and explained to parents GP should review the child 2 days after discharge

Answer 410

In larynx or trachea: Sudden onset Coughing, choking +/- vomiting Severe respiratory distress Stridor Cyanosis Drooling and voice changes Total obstruction will rapidly progress to unconsciousness and cardiorespiratory arrest Difficulty ventilating In main bronchus: Episode of choking, coughing, wheezing Tachypnoea Respiratory distress Cyanosis Persistent wheeze - focal Persistent cough Fever Haemoptysis SOB Recurrent/persistent consilidation May be asymptomatic after initial event before developing complications - pneumonia, abscess, bronchiectasis Lower than main bronchus: Often asymptomatic after initial event, then develop complications

Answer 411

Encourage coughing Urgently call for anaesthetics and/or ENT to assist with airway Give 5 back blows, 5 chest thrusts Open airway, look for obstructing foreign body and remove if seen Do not perform a blind finger sweep If patient unresponsive start CPR, examine airway under direct laryngoscopy prior to each ventilation, use Magill forceps to remove if foreign body seen If foreign body above vocal cords - cricothyroidotomy If below may need to be taken to theatre to remove

Answer 412

Inflammation and swelling of epiglottis Mainly due to infection with haemophilus influenzae type B (also strep pneumonia) Classically children aged 2-7 Prevalence greatly decreased due to vaccination against HiB Now greater incidence in elderly, those from countries without HiB vaccination

Answer 413

4 D's: Dyspnoea Dysphagia Drooling Dysphonia - muffled 'hot potato' voice Sore throat No cough Stridor Tripod position Fever

Answer 414

A-E assessment DON'T DISTRESS PATIENT - hands-off approach If acutely unwell no investigations necessary, lateral X-ray of neck shows thumbprint sign (swollen epiglottis) Throat swabs if intubating to aid diagnosis and guide management

Answer 415

Don't distress patient Alert senior paediatrician and anaesthetist (ICU/HDU) Prepare for intubtation/tracheostomy - not usually required Oxygen – high flow via face mask or nasal cannula, heliox if available Nebulised adrenaline 1:1000 When airway is secure: IV antibiotics e.g. ceftriaxone Steroids – IV dexamethasone Blood cultures, throat swabs IV fluids

Answer 416

Most don't need intubation, if intubated can be extubated after a few days and make a full recovery Can rapidly progress and become life-threatening Complications: Epiglottic abscess Mediastinitis - spread to retropharyngeal space Deep neck space infection Pneumonia Meningitis Sepsis/bacteraemia

Answer 417

Staph aureus Group A beta-haemolytic strep Can be complication of croup or intubation

Answer 418

Symptoms of respiratory infection for 1-3 days then onset of stridor and dyspnoea Can have acute onset stridor, high fever, purulent secretions

Answer 419

A-E assessment Protect airway - intubate if required Antibiotics - cover for staph aureus and strep species e.g. IV vancomycin and ceftriaxone

Answer 420

Usually children 6 months - 3 years, peak incidence 2 years More common in males Aetiology: Parainfluenza - most common Influenza Adenovirus RSV

Answer 421

Symptoms: 1-4 day history of non-specific cough, rhinorrhoea, fever Progresses to barking cough and hoarseness Symptoms worse at night Fever Red flags for respiratory failure - drowsiness, lethargy Signs: Stridor Decreased air entry Respiratory distress Tachypnoea Cyanosis Decreased consciousness

Answer 422

Westley croup score Mild - 0-2 Moderate - 3-5 Severe - 6-11 Impending respiratory failure - 12-17

Answer 423

Usually clinical diagnosis Avoid distressing child A-E assessment

Answer 424

Immediate: Moderate/severe croup or impending respiratory failure Consider: Previous Hx severe airway obstruction <6 months Immunocompromised Inadequate fluid intake Poor response to initial treatment Uncertain diagnosis Significant parental anxiety

Answer 425

All cases - oral dexamethasone Mild - fluids, analgesia, worsening advice Moderate/severe - nebulised adrenaline, oxygen as required, ENT/anaesthetist involvement, airway support

Answer 426

Secondary bacterial infections - bacterial tracheitis, bronchopneumonia, pneumonia Post-obstructive pulmonary oedema Pneumothorax Pneumomediastinum

Answer 427

Abnormal dilatation of the airways with associated destruction of bronchial tissue

Answer 428

Most commonly associated with cystic fibrosis Post-infectious - strep pneumoniae, staph aureus, adenovirus etc. Immunodeficiency Primary ciliary dyskinesia Post-obstructive - foreign body aspiration Congenital syndromes - Young's syndrome

Answer 429

Chronic productive cough Purulent sputum Dyspnoea Recurrent or persistent LRTI Finger clubbing Wheeze/crackles

Answer 430

Chest physio Treat exacerbations with antibiotics

Answer 431

Laryngomalacia

Answer 432

Abnormal supraglottic laryngeal structure which can cause partial airway obstruction: Long, curled, omega-shaped epiglottis Tall, bulky aryepiglottic folds Normally presents within first few weeks of life, resolves within first two years Symptoms peak at 6-8 months

Answer 433

High-pitched inspiratory stridor worse on lying flat or on exertion Normal cry Usually mild symptoms, intermittent, may be worse when distressed or with URTI Signs if more severe - respiratory distress, feeding difficulties, poor weight gain, obstructive sleep apnoea

Answer 434

Flexible laryngoscopy to visualise larynx

Answer 435

Mild - do not require treatment, resolve by 12-16 months Severe - elective surgery Life-threatening - keep child calm, involve senior Humidified oxygen/heliox Nebulised adrenaline Oral or IV dexamethasone Ventilatory support

Answer 436

Autosomal recessive condition More common with consanguinity Causes dysfunction of motile cilia in body: Respiratory tract Fallopian tubes/sperm - infertility Consequences: Infertility Bronchiectasis Paranasal sinusitis Situs inversus - strong association

Answer 437

Caused by Bordetella pertussis - gram negative bacteria Classically <3 months Now more in >15, but much milder Incidence peaks every 3-4 years Risks - unvaccinated, exposure to infected individual

Answer 438

Catarrhal phase - 1-2 weeks Rhinitis Conjunctivitis Irritability Sore throat Low-grade fever Dry cough Paroxysmal phase - 2-8 weeks Severe paroxysms of coughing followed by inspiratory gasp - 'whoop' sound May be followed by vomiting and cyanosis Can cause conjunctival haemorrhages and facial petechiae Convalescent phase - up to 3 months

Answer 439

<2 weeks cough - culture of nasopharyngeal aspirate or nasopharyngeal swab >2 weeks cough - anti-pertussis toxin IgG

Answer 440

Antibiotics don't alter clinical course but may reduce period of infectivity if given early on - macrolide antibiotic (clarithromycin) if duration of cough <21 days Supportive management - analgesia, fluids

Answer 441

Placenta is source of oxygen Lungs are non-functional, provide no oxygenation High energy demands of developing tissue, particularly brain Flow of blood: Umbilical arteries - transport deoxygenated blood back to placenta Umbilical vein - oxygenated blood from placenta Ductus venosus - blood bypasses the liver to IVC IVC --> right atrium Foramen ovale creates shunt between right atrium and left atrium, bypass lungs to aorta Blood which gets to right ventricle goes through ductus arteriosus which connects the pulmonary artery to the aorta From aorta to rest of body

Answer 442

First breath - increased partial pressure of oxygen, which causes pulmonary vasodilation Pulmonary vasodilation causes decreased right heart pressure Placental circulation stops, increased left heart pressure Combinations of these things causes foramen ovale (connects L and R atrium) to close Remnant = fossa ovalis Increased blood oxygenation causes drop in circulating prostaglandins, which causes closure of ductus arteriosus, 2-3 days after birth Remnant = ligamentum arteriosum No flow in umbilical veins - ductus venosus stops functioning, closes a few days later Remnant = ligamentum venosum

Answer 443

Adult - 2 alpha, 2 beta subunits Fetal - 2 alpha, 2 gamma subunits Fetal has higher affinity for oxygen compared to maternal haemoglobin - binds more strongly and enables the transfer of oxygen from mother to fetus Fetal - oxygen dissociation curve displaced to the left compared to adult haemoglobin At birth 80% haemoglobin remains in fetal form, falls to 10% by 4 months, continue to make fetal haemolgobin until 6 months - reduced oxygen exchange between vasculature and tissue

Answer 444

Blood volume relatively larger, absolute volume smaller - small blood loss will be significant Good at compensating - hypotension is a late sign Stroke volume smaller, limited capacity to increase so increase heart rate

Answer 445

Flow murmur - fast blood flow through heart during systole

Answer 446

Soft Short Systolic Symptomless Situation dependent - varies with position, only when child unwell/feverish No thrill/heave Localised to one area Features for referral: Murmur louder than 2/6 Diastolic murmurs Louder on standing Other symptoms such failure to thrive, feeding difficulty, cyanosis, or SOB

Answer 447

Acyanotic: Ventricular septal defects Atrial septal defects Patent ductus arteriosus Cyanotic - 6 Ts: Tetralogy of Fallot Transposition of great arteries Truncus arteriosus Total anomalous pulmonary venous connection Tricuspid valve abnormalities Ton of others - hypoplastic left heart, double outlet right ventricle, pulmonary atresia

Answer 448

Ventricular septal defect: Small - asymptomatic Moderate - poor feeding, failure to thrive, SOB Large - poor feeding, failure to thrive, sweaty and pale with feeds Atrial septal defect: Typically asymptomatic Patent ductus arteriosus: Small - symptomatic Moderate - congestive heart failure with failure to thrive Large - poor feeding, severe failure to thrive, recurrent LRTI Increased pulmonary blood flow - risk of pulmonary hypertension Lesions above level of nipple - ejection systolic murmur Lesion below level of nipple - pan-systolic murmur

Answer 449

Cyanosis Poor feeding Sweating during feeds Poor weight gain Severe - heart failure

Answer 450

Still's murmur - soft vibratory murmur over lower-left sternal border, normal blood flow and no cardiac lesion Venous hum - continuous murmur loudest over clavicles due to venous return from head and neck, varies with position Turbulent flow in pulmonary artery bifurcation - soft ejection systolic murmur caused by turbulent flow in the pulmonary artery bifurcation

Answer 451

Ventricular septal defect

Answer 452

Left-to-right shunt Increased blood flow through pulmonary circulation - pulmonary hypertension Increased blood through left side of heart - dilation of left atrium and ventricle Eisenmenger's syndrome - pressure in right ventricle higher than pressure in let ventricle due to increase in pulmonary vascular resistance, causes reversal of shunt (right-to-left), become cyanotic

Answer 453

Maternal diabetes Maternal rubella infection Foetal alcohol syndrome Uncontrolled maternal PKU Family history VSD Congenital conditions - Down's syndrome, Trisomy 18, Trisomy 13, Holt-Oram syndrome

Answer 454

Small VSD - mild or no symptoms, usually present because systolic murmur heard during routine examination Moderate VSD - Sweating Easily fatigued Tachypnoea - worse when eating Symptoms by 2-3 months - decreasing pulmonary vascular resistance means increasing left-to-right shunting Large VSD - SOB Problems feeding Poor weight gain Frequent chest infections Eisenmenger's syndrome - cyanosis Later - exercise intolerance, dizziness, chest pain, ankle swelling, clubbing, haemoptysis Signs on examination: Undernourished Sweaty Increased work of breathing Colour Clubbing Tachypnoea Hyperactive precordium Typically pan-systolic murmur heard at left lower sternal border

Answer 455

Ventricular septal defect Mitral regurgitation Tricuspid regurgitation

Answer 456

Small, asymptomatic - no intervention required Medical management: Ensure adequate weight gain - may need to supplement with NG tube feeding Diuretics (+ spironolactine - minimise potassium loss) - reduce pulmonary congestion ACE inhibitors - second-line, reduce systemic arterial pressure to reduce left-to-right shunt Digoxin - third line Surgical management: If large/medium and causing significant symptoms or likely to cause complications in later life Surgical repair Catheter procedure Important to maintain good dental hygiene, prophylactic antibiotics if dental procedures - risk of endocarditis

Answer 457

75% of small VSDs close spontaneously by age 10 Worse prognosis if pulmonary hypertension, Eisenmenger's syndrome - better if surgically closed

Answer 458

Two walls - septum primum and septum secondum Foramen ovale is in septum secondum Types: Ostium secondum - septum secondum fails to fully close Patent foramen ovale - foramen ovale fails to close Ostium primum - septum primum fails to fully close, leads to AV vale defects

Answer 459

Mid-systolic, crescendo-decrescendo murmur loudest at upper left sternal border with fixed split second heart sound Usually asymptomatic Childhood symptoms: Tachypnoea Poor weight gain Recurrent chest infections Adult symptoms: Exercise intolerance Palpitations Recurrent chest infections Fatigue Syncope Stroke - DVT, clot can travel through defect to left heart directly to brain

Answer 460

Left-to-right shunt Right heart overload and right heart strain - right sided overload and right heart failure and pulmonary hypertension Can lead to Eisenmenger syndrome - becomes right to left shunt, patient is cyanotic

Answer 461

If small and asymptomatic can watch and wait, should close spontaneously May need diuretics for heart failure Definitive management - Surgical closure or percutaneous closure

Answer 462

Arrhythmias - atrial stretch Pulmonary hypertension Eisenmenger syndrome - cyanosis Peripheral oedema TIA/stroke

Answer 463

Down's syndrome - 40-45% of patients with Down's have a congenital heart defect, 45% are AVSD Comlete AVSD - Heterotaxy syndromes

Answer 464

Complete AVSD - shunt left-to-right, causes right heart failure and increased pulmonary vascular resistance Partial AVSD - left-to-right shunts, causes volume overload of right atrium and ventricle and pulmonary over-circulation but may have normal pulmonary artery pressure

Answer 465

Tachypnoea Tachycardia Poor feeding Sweating Failure thrive Congestive heart failure - hepatomegaly, gallop rhythm, generalised oedema Harrison grooves in older - depression along border of chest at diaphragm insertion site due to chronic tachypnoea Hyperactive precordium Systolic heave on left sternal border Palpable apical thrill If large - mid-diastolic rumbling murmur along lower left sternal border with prominent third heart sound

Answer 466

Medical therapy: Diuretics - furosemide (+ spironolactone) ACE inhibitors - captopril Digoxin Adequate caloric intake Surgical management: Complete AVSD - corrective surgery, done at 3-6 months

Answer 467

Aortic stenosis heard at the aortic area (second intercostal space, right sternal border) Pulmonary stenosis heard at the pulmonary area (second intercostal space, left sternal border) Hypertrophic obstructive cardiomyopathy heart at the fourth intercostal space on the left sternal border

Answer 468

Ventricular septal defect Pulmonary stenosis Right ventricular hypertrophy Overriding aorta

Answer 469

Male FHx Teratogens - alcohol, warfarin, trimethadione Genetics - CHARGE syndrome, Di George syndrome VACTERL association - vertebral anomalies, anorectal malformation, cardiac defects, tracheo-oesophageal fistula, renal anomalies, limb abnormalities Associated with congenital diaphragmatic hernia

Answer 470

VSD - left-to-right shunt if small (eventually increased right ventricular pressure can cause shunt reversal, development of cyanosis), if large pressures are equal, right-to-left shunt (due to right ventricular hypertrophy - see below) and will always be cyanotic Pulmonary stenosis (or right ventricular outflow tract) - most commonly in infundibular septum, impairs flow of blood into main pulmonary artery, can cause intermittent obstruction which manifests as hypoxic episodes Hight pressures in right ventricle (due to shunt and outflow obstruction) lead to right ventricular hypertrophy = 'boot-shaped' heart Overriding aorta - dilated and displaced due to increased blood flow as recieving blood from both ventricles May form multiple aorto-pulomnary collateral arteries to increase pulmonary blood flow Most of blood in aorta is deoxygenated due to position of aorta, pulmonary valve stenosis and right ventricular hypertrophy = cyanotic

Answer 471

Bicuspid aortic valve (then coarctation of the aorta)

Answer 472

Dependent on severity Mild - usually asymptomatic initially, progresses with age, develop cyanosis by age 1-3 Moderate-severe - present in first few weeks of life with cyanosis and respiratory distress, recurrent chest infection and fail to thrive Extreme - TOF with pulmonary atresia or absent pulmonary valves, flow of blood into lungs is dependent on patent ductus arteriosus Signs: Central cyanosis, clubbing Thrill or heave Ejection systolic murmur - pulmonary stenosis Tet spells - hypoxic, cyanosis, irritability, paroysm of hypernoea Squatting - helps increase venous return, occurs during tet spell

Answer 473

During tet spells: Squat/knees to chest - increase venous return Oxygen Beta blockers - relax right ventricle, improve flow to pulmonary vessels IV fluids - increase pre-load Morphine - decrease respiratory rate to allow more effective breathing Prostaglandin infusion - maintain a patent ductus arteriosus, started urgently following delivery Definitive treatment - surgical repair RVOT stenosis resection, RVOT/pulmonary artery augmentation, VSD patch closure Usually not performed until at least 3 months old, may need some surgery prior to buy time (e.g. RVOT stent)

Answer 474

Polycythaemia Cerebral abscess Stroke Infective endocarditis Congestive cardiac failure Death - up to 25% in 1st year of life Even post-surgery - pulmonary regurgitation, arrhythmia, exercise intolerance, sudden death

Answer 475

Aorta arises from RV, pulmonary artery arises from LV Two separate parallel circulations - systemic and pulmonary In utero blood is oxygenated by placenta so don't need blood flow to lungs After birth when ductus arteriosus closes baby will be profoundly hypoxic and therefore cyanotic with lactic acidosis and death occurring quickly Often associated with ventricular septal defect or patent ductus arteriosus - this allows mixing and prevents profound cyanosis, but if closes then cyanosis will occur

Answer 476

Often identified on antenatal scans Cyanosis if no mixing If patent ductus arteriosus/ventricular septal defect will initially be asymptomatic then develop cyanosis, respiratory distress, tachycardia, poor feeding, poor weight gain, sweating in first weeks of life Right ventricular heave Systolic murmur if VSD

Answer 477

Prostaglandin infusion at birth - maintain ductus arteriosus Emergency atrial balloon septostomy - create ASD to allow mixing Definitive - surgical correction with arterial switch, performed <4 weeks

Answer 478

Prematurity

Answer 479

Pressure higher in aorta than pulmonary vessels, left-to-right shunt Causes pulmonary hypertension, leading to right sided heart strain and right ventricular hypertrophy Blood also flows back through pulmonary vein to left side of heart --> left ventricular hypertrophy

Answer 480

Small - asymptomatic Moderate - congestive heart failure with failure to thrive (poor feeding) Large - poor feeding, severe failure to thrive, recurrent LRTI Murmur = continuous crescendo-decrescendo 'machinery' murmur

Answer 481

If premature - good chance spontaneous closure Indomethacin (/ibuprofen) - inhibits prostaglandins to cause closure Surgical - catheter closure or PDA ligation

Answer 482

Absence of tricuspid valve - absence of inflow into the right ventricle --> hypoplastic right ventricle Always inter-atrial communication to allow systemic venous return out of heart via left atrium/ventricle 70% have VSD present - decreased pulmonary blood flow 30% great arteries transposed - pulmonary over-circulation, poorsystemic perfusion Associated with coarctation of the aorta or interrupted aortic arch Causes progressive cyanosis, heart failure

Answer 483

Prostaglandin infusion - prevent PDA closure Balloon atrial septostomy - enlarge inter-atrial communication Creation of Fontan circulation - passive flow of systemic blood to lungs, bypassing heart, univentricular system

Answer 484

Reduced pulmonary blood flow - cyanosis, poor feeding, failure to thrive

Answer 485

Prostaglandin infusion - stop PDA closure Surgical management - create Fontan circulation

Answer 486

Occur in 1/3 - 1/2 Commonest: Complete atrioventricular septal defect Ventricular septal defect Atrial septal defect Others: Tetralogy Patent ductus arteriosus

Answer 487

Pulmonary stenosis

Answer 488

Chromosomal: Down's syndrome Trisomy 18/13 Turner's syndrome Cri du chat syndrome DiGeorge syndrome Single gene: Marfan syndrome Noonan syndrome Others: William's VACTERL association

Answer 489

Cardiac: Neonatal - PDA, hypoplastic left heart syndrome, coarctation of the aorta, cardiomyopathy, critical aortic stenosis Infant - VSD, ASD, cardiomyopathy Child - cardiomyopathy, failing complex congenital heart disease Stress - fever, hypoxia, infection, acidosis Anaemia Fluid overload

Answer 490

Respiratory disease Cardiac Neonatal: transposition of the great arteries (TGA), persistent pulmonary hypertension of the newborn (PPHN), pulmonary atresia, hypoplastic left heart syndrome (HLHS) Infancy: tetralogy of Fallot Child: pulmonary hypertension During a seizure Stress: infection, hypoglycaemia, adrenal crises CNS depression: drugs, trauma, asphyxia

Answer 491

Infants: Poor feeding Failure to thrive Tachypnoea Sweating Older children: SOB Easy fatigability Oedema Left-sided failure Tachypnoea Orthopnoea Wheeze Pulmonary oedema Right-sided failure Hepatomegaly Oedema Raised JVP

Answer 492

Endothelial damage, platelet adhesion, microbial adherence Structural damage to heart (e.g. congenital heart disease, acquired heart disease), prosthetic material Bacteraemia - circulating bacteria adhere to lesion in heart and invade underlying tissue Form a biofilm

Answer 493

Alpha-haemolytic streptococci - strep viridans Staph aureus Coagulase-negative staph

Answer 494

Persistent low-grade fever New/change in murmur Splenomegally Cutaneous manifestations uncommon but can be - petechiae, Osler's nodes, Janeway lesions, splinter haemorrhages Other embolic phenomena - pulmonary emboli, stroke/seizures, retinal haemorrhages Immunologic phenomena - glomerulonephritis, Osler's nodes, Roth spots

Answer 495

Blood cultures ECHO

Answer 496

Duke's criteria - Two major One major and three minor Five minor

Answer 497

IV antibiotics +/- surgical management (repair/replace valve) Indications for surgical management: Large/highly mobile vegetation Embolic event after medical management started Aortic/motral insufficiency with signs of ventricular failure Heart failure unresponsive to medical management Valve perforation and rupture New onset heart block Large abscess

Answer 498

NICE does not currently recommend the use of prophylactic antibiotics against endocarditis while patients undergo dental procedures, or procedures affecting the gastrointestinal, genitourinary or respiratory tracts If undergo a procedure and require antibiotics for suspected infection as a complication of this should be given antibiotics with cover for IE

Answer 499

Occurs 2-4 weeks after infection with group A beta-haemolytic strep (typically strep pyogenes tonsillitis) Cross-reactivity of antibodies against strep against other tissues e.g. heart, brain, joints, skin causing systemic inflammation (type 2 hypersensitivity reaction)

Answer 500

2-4 post-strep infection e.g. tonsillitis Fever Joint pain - migratory arthritis affecting large joints Heart involvement - carditis (pericarditis, myocarditis, endocarditis), tachycardia/bradycardia, murmurs (typically mitral involvement), pericardial rub, heart failure Dermatological - erythema marginatum, subcutaneous nodules Neurological - chorea (Sydenham chorea) Raised CRP/ESR

Answer 501

Throat swabs for bacterial culture CRP/ESR - raised Anti-streptococcal antibody titres - can show which stage of infection if they are rising or falling Heart involvement - echo, ECG (prolonged PR), CXR Jones criteria - two major or one major plus two minor Major - SPECS Sydenham's chorea Polyarthritis Erythema marginatum Carditis Subcutaneous nodules Minor - CAPE CRP or ESR Arthralgia Pyrexia/fever ECG - prolonged PR

Answer 502

Treat streptococcal infections with antibiotics to prevent - strep tonsillitis give penicillin V for 10 Aspirin/NSAIDs Assess for emergency valve replacement Severe carditis - steroids, diuretics

Answer 503

Chronic rheumatic heart disease - permanent damage to heart valves (mitral stenosis) Recurrent rheumatic fever

Answer 504

Systemic medium-sized vessel vasculitis Affects children <5, more common in Asian children (particularly Japanese and Korean) More common in boys

Answer 505

American Heart Association diagnostic criteria: Persistent high fever (above >39) for more than 5 days, plus at least 4/5 key features - Bilateral conjunctival injection without exudate Erythema and cracking of lips, strawberry tongue or erthema or oral and pharyngeal mucosa Rash - maculopapular, erythroderma or erythema multiforme Peripheral changes - erythema, oedema, and/or desquamation of the hands and feet Cervical lymphadenopathy Natural history - usually three phases: Acute phase (1-2 weeks from fever onset) - high fever, irritability, rash, mucositis, peripheral erythema, oedema Subacute phase (2-4 weeks from fever onset) - afebrile, most clinical features begin to resolve, desquamation of hands and feet, highest risk for developing cardiac complications Convalescent phase (4-8 weeks from fever onset) - asymptomatic period, clinical features resolved, coronary artery aneurysms often improve but may get worse

Answer 506

Oral aspirin - reduces risk of coronary artery aneurysms and thrombosis, high dose given until fever has resolved for 48 hours, then low-dose aspirin for approximately 6 weeks (usually not given to under 16s due to risk of Reye's syndrome but benefits outweigh risk) IV immunoglobulin - reduces incidence of coronary artery aneurysm

Answer 507

Baseline bloods including ESR/CRP Echo essential - identify coronary artery aneurysms, valvular disease, serial echos to monitor disease progression

Answer 508

Coronary artery aneurysms - risk lower with early treatment Myocarditis/pericarditis Arrhythmias Valvular disease Coronary artery thrombosis/MI Sudden cardiac death

Answer 509

Leukaemia/Lymphoma Brain tumours Neuroblastoma Wilm’s tumour Bone tumours

Answer 510

Isolated thrombocytopaenia with normal bone marrow and absence of other causes of low platelets, which causes purpuric rash Autoimmune disease - antibodies produced against platelets Type II hypersensitivity reaction Usually 1-5 years old

Answer 511

History recent viral illness Onset symptoms over 24-48 hours: Bleeding - gums, epistaxis Bruising Petechial or purpuric rash - non-blanching No systemic symptoms, otherwise well

Answer 512

Low platelet count <150 (often severely reduced e.g. <20) RBC and WCC normal Blood film normal Normal megakaryocyte number (peripheral destruction of platelets, not clinically useful) If atypical features or fails to resolve spontaneously - bone marrow aspirate

Answer 513

General advice: Careful observation, limit high observation activities where possible, avoid IM injections/LPs, NSAIDs/aspirin Seek help after injuries which may cause internal bleeding Platelet transfusion if bleeding - but destroyed by antibodies rapidly IV immunoglobulins Consider steroids - usually relapse when weaned/stopped, need to discuss with haematologist as may mask underlying malignancy if bone marrow aspirate not taken before starting Consider splenectomy

Answer 514

Intracranial haemorrhage - rare Chronic ITP - majority resolve, 80-90% by 6 months Anaemia GI bleeding

Answer 515

IgA mediated small vessel vasculitis

Answer 516

Palpable purpuric rash (with localized oedema) over buttocks and extensor surfaces of arms and legs Abdominal pain - can lead to GI haemorrhage, intussusception, bowel infarction Polyarthritis - knees/ankles Features of IgA nephropathy may occur e.g. haematuria, nephrotic syndrome, renal failure

Answer 517

Supportive - simple analgesia, rest, hydration Monitor for complications - renal function, urinalysis and BP, intussusception

Answer 518

Trauma: Accidental injury - bony prominences, below knees, more common in summer Non-accidental injury - physical abuse, self-inflicted injury Haemostatic disorders: Inherited coagulation disorders - haemophilia A/B, von Willebrand disease, deficiency of other clotting factors Acquired - vitamin K deficiency, liver disease, DIC Platelet disorders: Increased destruction/consumption - immune (ITP, SLE), nonimmune (haemolytic uraemic syndrome, DIC) Impaired platelet production - congenital (Fanconi anaemia), acquired (aplastic anaemia, marrow infiltration e.g. leukaemia) Vascular disorders: Congenital - Ehlers-Danlos, Marfan Acquired - meningococcal, vasculitis (HSP, SLE) Malignant: Leukaemia

Answer 519

Nutritional deficiency Malabsorption - coeliac disease/IBD Blood loss - Meckel diverticulum, inherited bleeding disorders (von Willebrand disease) Red cell destruction - hereditary spherocytosis, G6PD deficiency, thalassaemias, sickle cell disease, haemolytic disease of the newborn, autoimmune haemolytic anaemia Impaired red cell function - Fanconi anaemia, renal failure, chronic disease

Answer 520

From most to least common: Acute lymphoblastic leukaemia - peaks age 2-5, males > females Acute myeloid leukaemia - peaks <2, M = F Chronic myeloid leukaemia

Answer 521

Anaemia - pallor, dyspnoea, fatigue Thrombocytopaenia - bruising, petechiae, epistaxis Leukopaenia - frequent infections Bone pain, limp Lymphadenopathy Hepatosplenomegaly Testicular enlargement Non-specific symptoms of malignancy: Weight loss Malaise Night sweats Failure to thrive

Answer 522

FBC Blood film Bone marrow aspirate CXR - mediastinal mass LP - check CNS involvement

Answer 523

Genetic conditions - Down's syndrome, Klinefelter syndrome, Noonan syndrome, Fanconi's anaemia Ionising radiation Li-Fraumeni syndrome Myelodysplasia

Answer 524

Chemotherapy - multi-drug, usually as part of trial Supportive management: Blood products (red cells, platelets) Antibiotics - infections If leukocytosis - hyperhydration to prevent hyperviscosity Bone marrow transplant - if suboptimal response to chemotherapy or relapse of leukaemia

Answer 525

Stunted growth and development Immunodeficiency and infections Neurotoxicity Infertility Secondary malignancy Cardiotoxicity

Answer 526

Age <1, >10 Male T cell lineage WCC at presentation >50 Chromosomal abnormalities e.g. Philadelphia chromosome t(9, 22) Failure to rapidly respond to induction chemotherapy

Answer 527

Epstein-Barr virus Immunosuppression Family history H. Pylori - MALT lymphoma

Answer 528

Visible or palpable lymphadenopathy - non-tender, rubbery Pain in lymph nodes when drinking Mediastinal lymphadenopathy - cough, wheeze, superior vena cava obstruction B symptoms: Fever Weight loss Night sweats

Answer 529

Malignant: Acute leukaemia - ALL, AML Lymphoma Hodgkin's disease Neuroblastoma Rhabdomyosarcoma Infectious: Benign reactive lymph nodes - most common cause Bacterial lymphadenitis e.g. staph, strep Viral infection - CMV, adenovirus, VZV, HIV, rubella, viral URTIs Cat scratch disease - Bartonella henselae TB Atypical mycobacterium Autoimmune: Kawasaki's disease Juvenile idiopathic arthritis SLE Sarcoidosis Drug reactions

Answer 530

Lymph node biopsy - Reed-Sternberg cells (large abnormal B cells) LDH often raised but non-specific CT, MRI, PET - diagnosing and staging

Answer 531

Ann Arbor staging: Stage 1: Confined to one region of lymph nodes Stage 2: In more than one region but on the same side of the diaphragm (either above or below) Stage 3: Affects lymph nodes both above and below the diaphragm Stage 4: Widespread involvement including non-lymphatic organs such as the lungs or liver A - no B symptoms B - B symptoms (fever, weight loss, night sweats)

Answer 532

Chemotherapy +/- radiotherapy Mediastinal mass causing airway compromise - high dose steroids and airway support if required Stenting of veins if superior vena cava obstruction

Answer 533

Site: supraclavicular, epitrochlear nodes Associated systemic symptoms Hepatosplenomegaly Other palpable masses Signs of bone marrow infiltration i.e. anaemia/bruising/petechiae

Answer 534

Present since birth/long history No progression Small No systemic symptoms No risk factors for malignancy Fluctuant/mobile Tenderness - more likely to be infectious/inflammatory No changes to overlying skin Soft Regular Bilateral Resolves spontaneously

Answer 535

X-linked recessive Almost exclusively affects males Affected father - no chance of passing on to son, 50% chance having carrier daughter Mother carrier - 50% chance of having affected son, 50% chance of having carrier daughter

Answer 536

Haemophilia - deficiency in factor VIII Haemophilia B - deficiency in factor IX Contribute to production of thrombin via the instrinsic pathway of the clotting cascade - insufficient production of fibrin for clot stabilisation

Answer 537

Spontaneous haemorrhage - haemarthrosis most common (joint pain, swelling, reduced ROM) Bleeding excessively in response to minor trauma - bruising, epistaxis, bleeding from gums, haematuria, GI, intracranial haemorrhage Anaemia - pallor, SOB, fatigue

Answer 538

FBC - anaemia, all other components should be normal Coagulation screen - APTT prolonged, PT normal Factor VIII and IX concentrations CT head if suspected intracranial bleed or joint imaging/aspiration in suspected haemorthrosis

Answer 539

Mild-moderate disease - no prophylaxis required, treat bleeds when they occur with one-off infusion of IV factor VIII (or factor IX), desmopressin or antifibrinolytics e.g. tranexamic acid May need prophylaxis for surgery/dental procedures Prophylaxis if severe disease - regular IV infusions of relevant factor Education - avoid contact sports, maintain good dental hygiene

Answer 540

Chronic arthropathy due to haemarthrosis Develop factor VIII/IX inhibitors - antibodies against clotting factors (30%) Transfusion-related complications - allergic reaction, acute haemolytic reaction, bacterial infection, transmission of blood borne virus

Answer 541

Von Willebrand disease

Answer 542

Family history of heavy bleeding or Von Willebrand disease Easy, prolonged or heavy bleeding Bleeding gums Epistaxis Menorrhagia Heavy bleeding during surgical operation

Answer 543

Management in response to major bleeding or trauma or in preparation for operations/dental procedures: Desmopressin - stimulates release of VWF VWF infusion Factor VIII infusion If menorrhagia: Tranexamic acid Mefenamic acid Norethisterone COCP Coil

Answer 544

Picked up on newborn hearing screening programme Parental concerns about hearing Behavioural changes associated with not being able to hear Ignoring sounds/people speaking to them Frustration or bad behaviour Poor speech and language development Poor school performance

Answer 545

Newborn hearing screening programme - automated audiometry brainstem response test Visual reinforcement audiometry Play audiometry Pure tone audiometry

Answer 546

Congenital: Maternal rubella or CMV infection during pregnancy Genetic deafness - autosomal recessive, non-syndromal usually e.g. Pendred syndrome (associated with thyroid dysfunction) Syndromes e.g. Down's syndrome Perinatal: Prematurity Hypoxia After birth: Jaundice Meningitis and encephalitis Otitis media or otitis media with effusion Ototoxic drugs - aminoglycosides

Answer 547

MDT: Speech and language therapy Educational psychology ENT specialist Hearing aids for children who retain some hearing Sign language

Answer 548

Genetic mutations in genes associated with collagen structure or function

Answer 549

Hypermobile EDS - most common and least severe, joint hypermobility, soft and stretchy skin, can occur with POTS Classical EDS - stretchy skin, severe joint hypermobility, joint pain and abnormal wound healing, risk of hernias, prolapse, mitral regurgitation, aortic root dilatation, autosomal dominant Vascular EDS - severe, blood vessels fragile and prone to rupturing, autosomal dominant Kyphoscoliotic EDS - poor tone as neonate/infant, kyphoscoliosis with growth, joint hypermobility, risk of rupture of mediu sized arteries, autosomal dominant inheritance

Answer 550

Only need breastmilk for food/drink up to age of 6 months By 6 months iron and zinc stores have diminished and nutritional requirements cannot be met by milk alone Introduce complementary foods, usually semi-solid first, small quantities and increase child tolerates Breast milk remains main source of nutrition Introduce to new flavours, textures and develop fine and oromotor skills Meals should contain an adequate amount of fat Foods to avoid before 6 months: Foods containing gluten Eggs, fish, liver, shellfish Nuts and seeds Cow's milk and soft/unpasteurised cheeses Food to avoid before 1 year: Honey - risk of botulism Potentially allergenic foods (?) Should have health start vitamins from 6 months (unless having >500ml infant formula) until 4 years More vitamins for children with dark skin (vitamin D), limited intake of solids

Answer 551

Baby: Reduced gut infection Reduced respiratory infection Reduced ear infection Reduced cardiovascular disease Reduced autoimmune condition Reduced SIDS Improved cognitive ability Mother: Reduced breast cancer Reduced ovarian cancer Reduced diabetes Possibly reduced postnatal depression Formula: Increase risk of overfeeding, SIDS, obesity

Answer 552

Infant formula - 2 main types: Whey dominant - closer to breast milk Casein dominant - closer cows milk Follow milk: Intended for use from 6 months Higher in iron and some vitamins and minerals than standard infant formula, but these should be supplied by solid diet Specialised formulae: Only used by non-breast fed infants with specific medical conditions Under care of Paediatric dietitian e.g. intolerance/allergy, preterm/weight faltering, enteropathy

Answer 553

Infection: viral, bacterial fungal, parasitic Autoimmune hepatitis Congestive cardiac failure Infiltration: primary and secondary (e.g. neuroblastoma) tumours Storage: Fat - cystic fibrosis, glycogen storage diseases Biliary obstruction - biliary atresia Idiopathic

Answer 554

Infection: EBV, malaria, CMV, bacterial sepsis, HIV Haematological: haemolytic anaemias, hereditary spherocytosis, sickle cell (reduces over time). Extramedullary haemopoesis: thallassaemia Portal Hypertension Neoplastic - leukaemia, lymphoma, metastaes Transient splenomegaly - acute blood loss, haemodilution, infections

Answer 555

Infection: EBV, CMV Portal Hypertension Infiltration: leukaemia, lymphoma Haematological: e.g. thalassaemia Idiopathic

Answer 556

Immaturity of the lower oesophageal sphincter, allowing stomach contents to easily reflux into the oesophagus Short, narrow oesophagus Delayed gastric emptying Liquid diet and high calorie requirement Spend significant periods recumbent

Answer 557

Chronic cough Hoarse cry Distress, crying or unsettled after feeding - back-arching, unusual neck postures Reluctance to feed Pneumonia Poor weight gain

Answer 558

Prematurity History of congenital diaphragmatic hernia or oesophageal atresia Obesity

Answer 559

Effortless regurgitation in otherwise well infants - no intervention necessary, reassurance If breastfed with frequent regurgitation causing distress - use alginate (e.g. Gaviscon) mixed with water immediately after feeds If formula-fed with frequent regurgitation causing marked distress - step-wise approach: Ensure infant is not over-fed - no more than 150ml/kg/day total Decrease feed volume by increasing frequency Use feed thickener (or pre-thickened formula) Stop thickener and start alginate added to formula Either - no improvement with alginate then start PPI or histamine antagonist (omeprazole or ranitidine)

Answer 560

Brief episodes of abnormal movements associated with GORD in infants, neurologically normal: Torticolis Dystonia - twisting, arching of back, unusual postures

Answer 561

Overfeeding Gastro-oesophageal reflux Pyloric stenosis (projective vomiting) Gastritis or gastroenteritis Appendicitis Infections such as UTI, tonsillitis or meningitis Intestinal obstruction Bulimia

Answer 562

Not keeping down any feed (pyloric stenosis or intestinal obstruction) Projectile or forceful vomiting (pyloric stenosis or intestinal obstruction) Bile stained vomit (intestinal obstruction) Haematemesis or melaena (peptic ulcer, oesophagitis or varices) Abdominal distention (intestinal obstruction) Reduced consciousness, bulging fontanelle or neurological signs (meningitis or raised intracranial pressure) Respiratory symptoms (aspiration and infection) Blood in the stools (gastroenteritis or cows milk protein allergy) Signs of infection (pneumonia, UTI, tonsillitis, otitis or meningitis) Rash, angioedema and other signs of allergy (cows milk protein allergy) Apnoeas are a concerning feature and may indicate serious underlying pathology and need urgent assessment

Answer 563

4x day in first week of lifer to two per day at age 1 Normal adult range (3 per day to 3 per week) is usually attained by age 4

Answer 564

Most commonly idiopathic/functional - inadequate fluid intake, reduced fibre intake, toilet training issues, sedentary lifestyle, changes to diet/lifestyle (e.g. weaning, toilet training, starting school) Psychosocial - difficult home/school environment, sexual abuse (keep safeguarding in mind) Organic causes - Hirschprung's disease, spinal cord lesions, cystic fibrosis, hypothyroidism, intestinal obstruction, anorectal malformations, cows milk intolerance More common in impaired mobility (e.g. cerebral palsy) and neuroevelopmental disorders (e.g. Down's, ASD) Medications - opioids, sedating antihistamines

Answer 565

Constipation from birth or during first few weeks of life - Hirschprung's Delayed passage of meconium - Hirschprung's, cystic fibrosis Abdominal distension with vomiting - Hirschprung's or intestinal obstruction Abnormal appearance of anus Neurological signs or symptoms Ribbon stool - anal stenosis Abnormal lower back/buttocks - spina bifida, sacral agensis Failure to thrive - coeliac, hypothyroidism, safeguarding Acute severe abdominal pain and bloating - obstruction or intussuception Concern of possible child maltreatment

Answer 566

Mostly idiopathic: Correct reversible factors High fibre diet and good hydration Start laxatives - movicol first line, lactulose second line (osmotic laxatives), stimulant (e.g. Senna) if unresponsive Faecal impaction - disimpaction regimen with initially high doses of laxatives Behavioural - schedule toilet visits, bowel diary, start charts

Answer 567

Desensitisation of the rectum, leads to faecal impaction which worsens desensitisation Anal fissures Haemorrhoids Overflow and soiling Rectal prolapse

Answer 568

>4 years old

Answer 569

Usually due to chronic constipation - overflow leak of stool secondary to faecal impaction and rectal desensitisation Other causes: Spina bifida Hirschprung's disease Cerebral palsy Learning disability Psychosocial stress Abuse

Answer 570

Periumbilical or multiple sites affected Associated with headaches and nausea Not associated with vomiting, GI bleeding, weight loss, diarrhoea, waking at night Pain on morning wakening which improves in the afternoon and becomes severe again prior to bedtime School absenteeism Associated with anxiety, bereavement, parental illness, financial problems, unemployment, relationship issues Location dependent - in school, while at medical appointments Look well, growing normally Distractible tenderness

Answer 571

Transient disorder due to enteric infection with viruses, bacteria or parasites Characterised by sudden onset of diarrhoea, with or without vomiting, nausea, fever, abdominal pain Causes: Most commonly viral - rotavirus (most common cause in children), norovirus (commonest cause across all ages), adenovirus Bacterial - campylobacter (most common bacerial cause), E. Coli, shigella, salmonella

Answer 572

Viral: Rotavirus - vomiting and watery diarrhoea, may have fever, abdominal pain, vomiting settles first (1-3 days) then diarrhoea (5-7), but can last up to 2 weeks Norovirus - nausea, projectile vomiting and watery diarrhoea, may have fever, headache, abdominal pain, myalgia, most people fully recover in 1-2 days Bacterial: Campylobacter - diarrhoea (may be bloody), nausea, vomiting, abdominal cramps, fever, most cases resolve within 1 week, mostly self-limiting in 2-3 days E. Coli O157 (Shiga-toxin producing) - abdominal cramps, bloody diarrhoea, vomiting, causes haemolytic uraemic syndrome (HUS), usually resolves in 10 days Shigella - bloody diarrhoea, abdominal cramps, fever, can cause HUS, resolves within 5-7 days

Answer 573

Altered consciousness - irritable, lethargic Decreased urine output Sunken eyes Dry mucous membranes Tachycardia Reduced skin turgor Shock: Decreased consciousness Pale/mottled skin Cold extremities Tachycardia Tachypnoea Prolonged CRT Hypotension (late sign)

Answer 574

Stool sample to microbiology if: Septicaemia suspected Blood and/or mucus in stool Immunocompromised Measure U&Es/glucose if: Giving IV fluids Symptoms/signs of hypernatraemia - jittery, increased muscle tone, hyperreflexia, convulsions, drowsiness, coma

Answer 575

Immediate: If not clinically dehydrated - Continue breast feeding/other milk feeds Encourage fluid intake Offer oral rehydration salt solution (ORS)as supplemental fluid to those at risk of dehydration If dehydrated - IV fluids if - shocked, red flag symptoms, persistent dehydration with oral rehydration, persistent vomiting with oral/NG fluids ORS if no indication for IV fluids, frequently in small amounts (e.g. 5ml every 5 minutes) Consider NG tube if refusing oral fluids Following rehydration: Slowly re-introduce solid food Advice on hand washing and avoiding sharing towels Do not return to school/nursery until 48 hours after last episode of diarrhoea/vomiting

Answer 576

Haemolytic uraemic syndrome - E. Coli O157, Shigella Acute renal failure Haemolytic anaemia Reactive complications - arthritis, carditis, urticaria, urethritis, erythema nodosum, conjunctivitis Toxic megacolon Acquired/secondary lactose intolerance: Bloating, abdominal pain, wind and watery stools after drinking milk Due to lining of intestine being damaged, resolves when gut heals

Answer 577

Smoking increases risk of Crohn's, decreases risk of UC and symptoms improve with smoking Crohn's - colicky abdominal pain and diarrhoea, less common to have blood/mucus UC - PR bleeding and mucus, increased frequency and urgency of defecation, tenesmus, diarrhoea

Answer 578

Finger-clubbing Erythema nodosum Pyoderma gangrenosum Episcleritis and iritis Inflammatory arthritis Primary sclerosing cholangitis (UC)

Answer 579

Family history of IBD Family history of autoimmune conditions Parental smoking Bottle feeding Peri-anal signs

Answer 580

Blood tests - anaemia, infection, thyroid, kidney and liver function Faecal calprotectin - useful for screening OGD/colonoscopy with biopsy is gold standard for diagnosis Imaging (US, CT, MRI) for complications e.g. fistulas, abscesses, strictures

Answer 581

Monitor growth and pubertal development - especially when treating with steroids Dietician input Induce and maintain remission - Crohn's: Induce - steroids first-line Other options - azathioprine, mercaptopurine, methotrexate, infliximab, adalimumab Maintain - azathioprine, mercaptoprurine first-line Other options - methotrexate, infliximab, adalimumab UC: Induce - aminosalicylate (e.g. masalazine) first line for mild/moderate, IV steroids for severe Steroids second line for mild/moderate, IV ciclosporin second line for severe Maintain - aminosalicylate, azaioprine, mercaptopurine Surgery: For complications or disease unresponsive to medical management

Answer 582

Autoimmune diseases - type 1 diabetes, thyroid disease, rheumatoid arthritis, Addison's disease Down's syndrome Turner's syndrome

Answer 583

Genetic predisposition (HLA-DQ2/8) + environmental factor Autoantibodies created in response to exposure to gluten (gliadin), target the epithelial cells of the intestine and lead to inflammation Autoantibodies - anti-tissue transglutaminase (anti-TTG) and anti-endomysial (anti-EMA) Affects small intestine, particularly jejunum, causing atrophy of intestinal villi T-cell-mediated inflammation

Answer 584

Often asymptomatic Typically from introduction of gluten, 6-9 months Failure to thrive Diarrhoea - pale, bulky stool Distended abdomen Fatigue Weight loss Mouth ulcers Anaemia - iron, B12 or folate deficiency Dermatitis herpetiformis Neurological symptoms - peripehral neuropathy, epilepsy, ataxia

Answer 585

Must be on diet containing gluten Check total immunoglobulin A levels (if these are low antibodies may be falsely low, need to test IgG antibodies) Antibodies raised Anti-TTG (first line) Anti-EMA Endoscopy + biopsy - when serology positive, gold-standard diagnosis Crypt hypertrophy Inflammatory cells Villous atrophy

Answer 586

Life-long gluten free diet If deficient - iron, B12 etc. Annual follow-up to check for symptoms, diet compliance, development/growth and long-term complications

Answer 587

Anaemia Osteopenia/ osteoporosis Refractory coeliac disease( symptoms persist despite diet, my need treatment with steroids) Malignancy - enteropathy-associated T-cell lymphoma, Non-Hodgkin lymphoma, small bowel adenocarcinoma Fertility problems/ adverse events during pregnancy Depression/anxiety

Answer 588

Immune-mediated allergic response to milk proteins casein and whey Can be IgE mediated (type-I hypersensitivity) or non-IgE mediated Largely occurs in formula-fed infants, highest prevalence in first year of life Associated with personal or family history of atopy

Answer 589

Usually <1 Can be when weaned from breastmilk to formula milk or food containing cow's milk GI symptoms - bloating and wind, abdominal pain, diarrhoea, vomiting Allergic symptoms - urticaria, angioedema, cough, wheeze sneezing, watery eyes, eczema (more allergic symptoms in IgE mediated) Rarely anaphylaxis Faltering growth/failure to thrive

Answer 590

Clinical diagnosis Skin prick testing can aid diagnosis if unsure Can also test for IgE antibodies in serum (RAST-radioallergosorbent test), low specificity

Answer 591

Avoidance of cow's milk in all forms, including in mother's diet if she is breastfeeding Elimination diet for at least 6 months or until infant is 9-12 months old, re-evalulation every 6-12 months to assess for tolerance to cow's milk protein If formula-fed - replace with hypoallergenic formula, either extensively hydrolysed (first-line) or amino acid formula Monitor growth and nutritional status

Answer 592

Malabsorption/reduced intake - IDA, faltering growth Anaphylaxis - rare Most patients become tolerant by early childhood

Answer 593

Infection - rota and enterovirus, E coli, salmonella, campylobacter Staphylococcal toxin in food poisoning Response to infection e.g. pneumonia Starvation stools (watery, green mucous) - after having only fluids for a few days Surgical - intussusception, pelvic appendicitis, Hirschprung’s

Answer 594

Toddler’s diarrhoea - loose stools in otherwise healthy, thriving child Constipation with overflow Post infectious food intolerance (e.g. lactose) Inflammatory bowel disease Malabsorption e.g. CF, coeliac

Answer 595

Stool – culture and sensitivity, c.diff toxin, virology Bloods – FBC, CRP, LFTs, ESR Serum TTG Faecal calprotectin Peri-anal inspection

Answer 596

Cystic fibrosis Pancreatic insufficiency Lactose intolerance/Cow's milk protein allergy IBD Coeliac Biliary atresia

Answer 597

Swallowed blood (from cracked nipple in breastfeeding neonate, to epistaxis in child) Repeated vomiting, acute gastritis Ulceration - hiatus hernia, drugs (aspirin, iron ingestion), peptic ulcer Bleeding disorders Very rarely oesophageal varices

Answer 598

Local - anal fissure Swallowed blood from epistaxis Gastroenteritis (more likely bacterial cause) Acid ulceration: hiatus hernia, peptic ulcer, Meckel’s diverticulum Intussusception (late sign in approx 50% of cases) Inflammatory bowel disease

Answer 599

Can be asymptomatic Acute - flu-like symptoms, jaundice, fever, nausea/vomiting, anorexia, abdominal pain, diarrhoea, pale stools/dark urine, pruritus

Answer 600

Medical: Infection - gastroenteritis, mesenteric adenitis, lower lobe pneumonia, UTI, acute hepatitis Constipation Henoch-Schonlein purpura Acute nephritis Rare but important - DKA, sickle cell crisis, iron/ lead poisoning Surgical: Acute appendicitis Intussuception Volvulus Strangulated inguinal hernia Torsion of testis/ovary

Answer 601

Per day: 100ml/kg for first 10kg of weight 50ml/kg for next 10kg 20ml/kg for any weight over 20kg Per hour: 4ml/kg for first 10kg 2ml/kg for next 10kg 1ml/kg for weight over 20kg

Answer 602

Define % dehydration based on clinical signs: 5% (mild, 50ml/kg) - lethargic, loss of skin turgor, dry mouth, fontanelle slack 10% (moderate, 100ml/kg) - tachycardia, tachypnoea, fontanelle and eyes sunken, mottled skin, oliguria 15% (severe, 150ml/kg) - shock, coma, hypotension Fluid deficit = % dehydration x weight (kg) x 10 Total fluid requirement - percentage dehydration plus maintenance plus ongoing losses from vomiting/diarrhoea

Answer 603

Bolus of 0.9% sodium chloride with no additives, 10ml/kg over less than 10 minutes Smaller bolus if renal/cardiac failure, DKA, neonatal

Answer 604

Usually 0.9% sodium chloride + 5% glucose If ongoing losses (diarrhoea, vomiting) supplement with potassium Monitor U&Es and plasma glucose at least every 24 hours, more frequently if there are electrolyte abnormalities

Answer 605

Sodium 2-4mmol/kg/day Chloride 2-4mmol/kg/day Potassium 1-2 mmol/kg/day

Answer 606

Meconium ileus Hirschsprung’s disease Oesophageal atresia Duodenal atresia Intussusception Imperforate anus Malrotation of the intestines with a volvulus Strangulated hernia

Answer 607

Persistent vomiting - may be bilious Abdominal pain and distension Failure to pass stools or wind Abnormal bowel sounds - high-pitched tinkling then absent

Answer 608

AXR - dilated loops of bowel proximal and collapsed distal

Answer 609

Nil be mouth NG tube IV fluids --> Definitive management of cause

Answer 610

Twisting of either the spermatic cord within tunica vaginalis (intra-vaginal torsion) or entire testis and tunica vaginalis (extra-vaginal) Two peaks - neonates and teenage boys Neonates - attachment of tunica vaginalis not fully formed, tends to be extra-vaginal Teenage (13-15 is peak) - intra-vaginal Bell-clapper deformity - horizontal lie of testis, not fixed posteriorly to tunica vaginalis, increased risk of torsion Previous torsion - recurrence common Cryptorchidism

Answer 611

Sudden onset severe unilateral testicular pain (may be abdominal) Associated with nausea and vomiting On examination: High, horizontal lie Enlarged Erythematous Hard Marked tenderness Absent cremasteric reflex Prehn's sign negative

Answer 612

Torsion of Hydatid or Morgagni - younger, less erythematous, normal lie, blue dot sign Acute epididymitis/epididymo-orchitis - older, sexually active, gradual onset, less severe, dysuria, positive Prehn's Idiopathic scrotal oedema - no pain or inflammation, bilateral Hydrocele - painless swelling, transilluminates

Answer 613

Remnant of the Mullerian duct, common testicular appendage

Answer 614

Clinical diagnosis - any suspicion, send to theatre If very unsure Doppler US - whirlpool sign Urine dipstick if infection suspected

Answer 615

Surgical emergency - 4-6 hour window from onset of symptoms to salvage testis before significant ischaemic damage occurs Strong analgesia and anti-emetics NBM with maintenance fluids Urgent surgical exploration of testis - if torsion, bilateral orchidopexy May need orchidectomy if non-viable

Answer 616

Ovary twists in relation to surrounding connective tissue, fallopian tube and blood supply Usually due to ovarian mass >5cm (e.g. cyst or tumour), more likely with benign tumour Can also occur in younger girls before menarche - longer infundibulo-pelvic ligaments Twisting of blood supply leads to ischaemia --> necrosis

Answer 617

Sudden onset severe unilateral pelvic pain Pain gets progressively worse Associated with nausea and vomiting Can cause intermittent pain - ovary twisting and untwisting itself On examination - localised tenderness, palpable mass in pelvis

Answer 618

Pelvic ultrasound - whirlpool sign, free fluid in pelvis and oedematous ovary Doppler - lack of blood flow Definitive diagnosis - laparoscopic surgery

Answer 619

Emergency laparoscopic - detorsion or oophorectomy (if too ischaemic to be salvaged) Usually fertility not affected if one ovary non-functioning Necrotic ovary may become infected, develop and abscess and lead to sepsis Can rupture leading to peritonitis and adhesions

Answer 620

Symptoms: Abdominal pain - initially central (poorly localised) and dull then migrates to right iliac fossa (well-localised), sharp Progression of symptoms - vomiting, anorexia, nausea, diarrhoea, constipation Signs: Tenderness over McBurney's point (1/3 from ASIS to umbilicus) Rovsing's sign - palpation of LIF causes pain in RIF Psoas sign - RIF pain with right hip extension Peritonism - rebound tenderness, percussion pain, guarding Signs of sepsis In children - Can be atypical Urinary symptoms Left sided symptoms

Answer 621

Clinical features + raised inflammatory markers USS - first-line in children

Answer 622

Appendicectomy ?conservative management - active observation, antibiotics and fluid therapy

Answer 623

Perforation --> peritonitis --> sepsis Pelvic abscess Surgical complications: Bleeding, infection, pain Damage to bowel, bladder, etc. Anaesthetic risks VTE Wound infection Adhesions

Answer 624

Full thickness invagination (or 'telescoping') of proximal bowel into its distal portion, causing bowel obstruction Mostly no clear cause Secondary causes - viral infection (e.g. rotavirus, enlarged Peyer's patches)) Meckel's diverticula, polyps, lymhpomas/leukaemias, HSP, cystic fibrosis 90% are ileo-colic - distal ileum passes into caecum through ileo-caecal valve Epidemiology - peak incidence 5-10 months, boys > girls

Answer 625

Classical triad = intermittent, severe abdominal pain + vomiting + redcurrant stool Episodes of sudden onset inconsolable crying episodes/abdominal pain if able to report Normal between episodes Pale, lethargic, unwell child Draw up knees to chest Red-currant stools - blood and mucus RUQ mass on palpapation - 'sausage shaped' Vomiting

Answer 626

USS - gold standard Target/doughnut sign AXR - less sensitive and specific Distended small bowel loops Absence of gas in distal bowel Curvilinear outline of intussusception

Answer 627

IV fluid resuscitation NG tube to decompress bowel Non-operative: Air or contrast enema used to reduce intussuscepted bowel Contraindicated if evidence of perforation, peritonism or uncorrected shock Surgical: If enema contraindicated or unsuccessful Manual reduction Surgical resection if necrotic bowel

Answer 628

Obstruction Gangrenous bowel Perforation Dehydration and shock Death

Answer 629

Congenital malformation of the small bowel Failure of the vitelline duct to obliterate during the 5th week of fetal development, leading to formation of intestinal blind pouch

Answer 630

Mostly asymptomatic (silent) If symptomatic, symptoms begin before age 2 - Rectal bleeding - can be bright red or malaena Absolute constipation Presentation with complications – intestinal obstruction, volvulus, intussusception Epigastric/umbilical pain

Answer 631

Technetium-99m scan (Meckel scan)

Answer 632

Laparoscopic resection of diverticulum - diverticulotomy If strangulation/perforation/obstruction may need small bowel resection

Answer 633

Occurs in 2% of the population 2 feet from the IC valve 2 inches long 2 years is most common age at clinical presentation 2:1 male:female ratio

Answer 634

Protrusion of viscus through a defect of the walls of its containing cavity

Answer 635

Indirect inguinal hernia most common in children – abdominal contents (bowel) protrude through the deep inguinal ring into the inguinal canal, and through the superficial inguinal ring into the groin Due to incomplete closure of the processus vaginalis (outpouching of the peritoneum) after descent of testes/round ligament in utero Direct inguinal hernia – more common in adults Due to weakness of posterior wall of inguinal canal/increased intra-abdominal pressure, through Hesselbach’s triangle

Answer 636

Prematurity Male sex Family history

Answer 637

Groin swelling Symptoms of bowel obstruction or strangulation – nausea/vomiting, constipation, abdominal pain O/E Inguinal/inguino-scrotal mass that you cannot ‘get above’ Reducible when lying flat Does not transilluminate Positive cough reflex If strangulated – irreducible, tender, tense lump

Answer 638

Reduce and hold pressure over deep inguinal ring (mid-way between ASIS to pubic tubercle) – if indirect will remain reduced, if direct will not

Answer 639

Mesh repair is gold standard – open or laparoscopic May need emergency management if irreducible to prevent bowel and testicular ischaemia Complications – Recurrence Strangulation Incarceration Bowel obstruction

Answer 640

Same as obstruction – Vomiting – green bilious Abdominal distension Diffuse abdominal pain Absolute constipation

Answer 641

Conservative management – endoscopic decompression Surgical management – laparotomy, Hartmann’s procedure (removal of rectosigmoid colon and formation of colostomy), ileocaecal resection or right hemicolectomy

Answer 642

Mostly asymptomatic, managed with simple observation until 5 years old, may then be repaired if still clinically present

Answer 643

Often noticed/increased with systemic illness Swelling, blue hue, can get above it on examination Transilluminates

Answer 644

Most often an early manifestation of cystic fibrosis - causes thick, sticky GI secretions Failure to pass meconium in the first 24 hours of life Signs of intestinal obstruction – bilious vomit, abdominal distension Can progress cause to volvulus and/or perforation

Answer 645

If uncomplicated (no perforation, volvulus or atresia) can give one or more enema with radiographic contrast medium (e.g. gastrografin), sometimes with N-actylcysteine under fluoroscopy If complicated or doesn’t resolve with enema – laparotomy, ileostomy with lavage of proximal and distal loops to liquefy and remove abnormal meconium

Answer 646

FHx Low birth weight, small for gestational age Preterm delivery Endocrine disorders e.g. congenital adrenal hyperplasia Disorders of sexual development Maternal smoking Previous inguinal hernia surgery

Answer 647

Infertility Testicular cancer – 3x more common Testicular torsion Inguinal hernias

Answer 648

If suspected disorder of sexual development, ambiguous genitalia or hypospadia – urgent paediatric assessment If suspected bilateral undescended testes at 6-8 weeks – urgent paediatric referral to be seen within 2 weeks If unilateral undescended testis at bith, re-examine at 6-8 weeks If still undescended at 6-8 weeks, re-examine at 4-5 months At 4-5 months (correct for gestational age) if still undescended refer to paediatric surgery/urology, to be seen by 6 months of age If in scrotum but retractile, need annual follow-up and re-examination until after puberty, risk of them ascending Examination under anaesthesia to locate testis If palpable – open orchidopexy If intra-abdominal – single or 2-stage (Fowler-Stephens) procedure

Answer 649

Always obstruction until proven otherwise Volvulus Malrotation Intussusception Meconium ileus Duodenal atresia Necrotising enterocolitis

Answer 650

(Age + 4)/2

Answer 651

Cancer derived from neural crest cells, typically arise from adrenal glands or abdominal sympathetic chain Neural crest is derived from ectoderm and usually migrates through body to form a range of structures including the sympathetic nervous system and adrenal medulla When migration is stalled neural crest cells have the potential to acquire mutations that eventually lead to neuroblastoma

Answer 652

Often non-specific symptoms Abdominal distension – can cross midline Fatigue Weight loss Increased catecholamine secretion – sweating, agitation, hypertension, tachycardia Metastases – bone pain, recurrent infections, ‘blueberry muffin’ rash due to seeding mets in dermis Compression of sympathetic nervous system – urinary incontinence

Answer 653

Homovanillic acid and vanillymandelic acid in urine (products of catecholamine breakdown) MIBG scan is definitive

Answer 654

Neuroblastoma Wilm’s tumour Hepatoblastoma Lymphoma Germ cell tumour Soft-tissue tumour

Answer 655

<18 months – likely to regress, can monitor closely for a period before intervention required If older or more aggressive disease – surgery +/- adjuvant chemo or radiotherapy Immunotherapies emerging

Answer 656

Relapse Opsoclonus-myoclonus ataxic syndrome – autoimmune reaction to proteins from neuroblast cells, cerebellar involvement causes opsoclonus, myoclonus and ataxia

Answer 657

Beckwith-Wiedemann syndrome WAGR syndrome with aniridia, GU malformations, mental retardation Hemihypertrophy WT1 gene mutation on chromosome 11 (1/3 of cases)

Answer 658

Abdominal mass Painless haematuria Flank pain Anorexia Fever 20% have mets – lungs most commonly

Answer 659

Nephrectomy Chemo/radiotherapy

Answer 660

Referral for urgent paediatric review within 48 hours

Answer 661

Neutropaenic sepsis – IV antibiotics Tumour lysis syndrome – hyperuricaemia, hyperkalaemia, hypophosphataemia, hypocalcaemia Can cause AKI, seizures, arrhythmias, death Require monitoring via ECG, fluid balance, U&Es Management – IV fluids (hyperhydration), xanthine oxidase inhibitor (e.g. allopurinol), management of hyperkalaemia, renal dialysis

Answer 662

Passive – immunoglobulin given IV or SC, can be specific antibodies (e.g. VZIG) Used if patient is unable to make the antibody themselves e.g. primary antibody deficiency, T-cell immune deficiencies, to avoid big inflammatory response in established severe disease Active – foreign antigen stimulates a host immune response without causing infection, production of T and B cell memory

Answer 663

Live attenuated – contain modified organisms that replicate but do not cause disease in individuals with normal immune system e.g. BCG, MMR, rotavirus, (live-attenuated) influenza, oral polio Inactivated – contain inactivated whole organisms, or more commonly specific components/antigens (protein or polysaccharide) known to stimulate immune response e.g. inactivated polio, trivalent influenza, DTP, HPV, menB Conjugate – link antigen to protein to induce response in children <2, e.g. haemophilus influenzae type B, menC, pneumococcal vaccine, ACWY meningococcal

Answer 664

All vaccines: Confirmed anaphylactic reaction to previous dose of vaccine containing the same antigens Confirmed anaphylactic reaction to another component contained in the relevant vaccine e.g. neomycin, streptomycin or polymyxin B (trace in some vaccines) Egg allergy: Yellow fever Live vaccines: Contraindicated in immunosuppressed/immunocompromised e.g. severe primary immunodeficiency, malignant disease treated with chemo/radiotherapy, solid organ transplant on immunosuppressant medicine, bone marrow transplant, high-dose systemic steroids, other immunosuppressive drugs, HIV-positive (BCG)

Answer 665

Spread through respiratory droplets or direct contact with nasal/throat secretions Incubation period – 10 days Infectious period – from 1-2 days before symptoms until 4 days after rash has appeared

Answer 666

Prodromal phase – 2-4 days Fever >39 Cough Conjunctivitis Coryza Diarrhoea Koplik’s spots – red spots with blue/white centres on buccal mucosa, start 1-2 days before onset of rash Erythematous maculopapular rash – starts behind ears, migrates to face and trunk then limbs Associated with cervical lymphadenopathy and high fever Rash lasts about 4 days

Answer 667

Confirm diagnosis using serology – measles specific IgM/IgG serology

Answer 668

Usually self-limiting, symptoms resolve in around a week Supportive management: Rest, adequate fluid intake, antipyretics Vitamin A? Notifiable condition – inform local health protection Don’t attend school/work for at least 4 days after rash has appeared and avoid contact with those who are susceptible

Answer 669

Otitis media Pneumonia – pulmonary involvement of measles or bacterial superinfection Tracheobronchitis Convulsions Encephalitis Subacute sclerosing panencephalitis – rare degenerative disease of CNS, causing seizures and affecting motor, cognitive and behavioural function, occurs 5-10 years after initial exposure to virus Sigh impairment – increased risk if vitamin A deficient

Answer 670

Transmission – droplet or direct skin contact with vesicle fluid Incubation period – 10-14 days, can be up to 21 days Infectivity period – 2 days before until 5 days after rash

Answer 671

Prodromal (2-4 days) – fever, malaise, myalgia, anorexia, headache, nausea Rash – small erythematous macules on scalp, face, trunk and proximal, which develop into papules, vesicles and pustules, very itchy Crusting of vesicles and pustules occurs within 5 days

Answer 672

Hydration Avoid scratching – risk of superimposed bacterial infection and scarring Avoid pregnant women, neonates and immunocompromised Symptom management – paracetamol, antihistamines, emollients, calamine lotion for itch If adolescent/adult presents within 24 hours of rash onset can consider oral aciclovir If high-risk – aciclovir, IV immunoglobulins Notifiable disease Do not return to school until all lesions are crusted over

Answer 673

At risk – immunocompromised, neonates or older patients, pregnant women Complications: Dehydration Secondary bacterial infection of lesions Scarring Viral pneumonia Encephalitis Reye’s syndrome – avoid aspirin Shingles

Answer 674

Transmitted via respiratory droplets and saliva, highly infectious Incubation period of 16-18 days Infectivity period 1-2 days after parotid swelling, 9 days after

Answer 675

15-20% asymptomatic Prodrome – non-specific, flu-like symptoms including fever, headache, malaise, myalgia, anorexia Parotitis, lasting 3-4 days, up to 10

Answer 676

Self-limiting, recover within 1-2 weeks Supportive management – simple analgesia, fluid intake, rest Notifiable disease Do not attend school for 5 days following development of parotitis

Answer 677

Orchitis (or epididymo-orchitis) Meningitis and encephalitis Oophoritis Sensorineural deafness – usually unilateral and transient Pancreatitis Nephritis Meningitis Arthritis Thyroiditis

Answer 678

Transmission via respiratory secretions Incubation period 4-14 days Infectivity period – no longer infectious once rash appears

Answer 679

Prodrome – low-grade fever, general malaise A few days later maculopapular spots on cheeks (giving slapped cheek appearance), fine rash extends to trunk and limbs Rash fades to give a lacy appearance, lasting 2-30 days, heat or light can trigger recurrence e.g. hot bath, being in the sun May have associated arthralgia/arthritis

Answer 680

Aplastic crisis in chronic haemolytic disease e.g. sickle cell, thalassaemia, immunocompromised Hydrops fetalis if maternal infection <20 weeks

Answer 681

Supportive management

Answer 682

Transmission via direct contact with infected person or droplet spread from respiratory secretions Incubation period – 14-21 days Infectivity period – 1-2 days before to 7 days after rash appears

Answer 683

Prodrome – coryza, tender cervical lymphadenopathy Development of fine maculopapular rash, starts on face then fades and spreads down trunk Arthralgia Palatal petechiae

Answer 684

Encephalitis Thrombocytopaenia Congenital rubella syndrome – damage mostly if exposed during first 10 weeks of pregnancy

Answer 685

Supportive management Non-immune women should receive MMR vaccine pre- or post-pregnancy (not during as live vaccine)

Answer 686

Human herpes virus 6

Answer 687

Transmission via contact with saliva or respiratory droplets Incubation period – 7-14 days Infectivity period – until fever subsides

Answer 688

Sudden onset high fever with mild coryza, no other physical findings On day 3-4 fever resolves and maculopapular rash appears on trunk and limbs, lasts for 1-2 days

Answer 689

One of the commonest causes of febrile convulsions in the 6-18 months old age group, usually on first day of illness

Answer 690

Supportive management

Answer 691

Spread via respiratory droplets Incubation period – 7-14 days Infectivity period – while coughing, greatest risk during catarrhal phase

Answer 692

Most commonly viral – enterovirus, herpes simplex (causes meningoencephalitis) Can also be bacterial, fungal, parasitic or non-infective Should be treated as bacterial until proven otherwise due to high mortality Most common causes of acute bacterial meningitis in children >3 months – neisseria meningitidis, streptococcus pneumoniae and haemophilus influenzae type B In neonates (<1 month) – group B streptococci (streptococcus agalactiae), E. coli, strep pneumoniae, listeria monocytogenes

Answer 693

Neonates – maternal group B strep colonisation, low birth weight, prematurity, premature rupture of membranes, maternal peripartum infection Unvaccinated against HiB, menABCWY Immunocompromised Cranial anatomical defects Contiguous infection – otitis media, sinusitis, pneumonia, mastoiditis

Answer 694

Early, often vague and non-specific: Fever, headache, nausea/vomiting, lethargy, irritability, muscle/joint pain, poor feeding Later, more specific symptoms/signs: Bulging fontanelle (indicates raised ICP but may be masked by dehydration) Neck stiffness (in children >1) or back rigidity Kernig’s sign – pain and resistance on passive knee extension with hips fully flexed Brudzinski’s sign – knees and hip flex on bending the head forward Non-blanching rash (indicates meningococcal disease) – petechiae or purpura Photophobia Leg pain Mottled skin, cold hands and feet, prolonged CRT Altered mental state Shock – tachycardia, hypotension, respiratory distress, oliguria Neurological symptoms – seizures, paresis, focal neurological deficits Pay attention to parental concern

Answer 695

LP for all children <1 month with fever, 1-3 months with fever and unwell and <1 year with unexplained fever and other features of serious illness and any age with suspected meningitis Contraindications to LP – cardiovascular compromise, signs of raised ICP, abnormal clotting studies/low platelets or skin infection at LP site Take blood glucose alongside so can compare blood and CSF glucose levels Ideally LP before antibiotics but if LP is going to delay antibiotic administration by >1 hour give antibiotics first

Answer 696

Appearance – cloudy, turbid Opening pressure – elevated (>25) WBC – elevated >100 cells (primarily polymorphonuclear leukocytes, >90%) Glucose level – low (<40% of serum glucose) Protein level (elevated (>50)

Answer 697

Appearance – clear Opening pressure – normal or elevated WBC – elevated (50-1000 cells, primarily lymphocytes) Glucose level – normal (>60% serum glucose, may be low in HSV infection) Protein level – elevated (>50)

Answer 698

Appearance – clear or cloudy Opening pressure – elevated WBC – elevated (10-500) Glucose level – low Protein level - elevated

Answer 699

Appearance – opaque, forms fibrin web if left to settle Opening pressure – elevated WBC – elevated (10-1000 cells, early PMN then mononuclear) Glucose level – low Protein level - elevated

Answer 700

Community – urgent stat IM/IV benzylpenicillin prior to transfer to hospital Empirical antibiotic treatment for suspected bacterial meningitis – IV cefotaxime, add amoxicillin and gentamicin if <6 weeks >3 months old with no petechiae/purpuric lesions add dexamethasone and continue for 2 days (reduces risk of Hib related deafness) Definitive treatment N. meningitis – 7 days IV cefotaxime/ceftriaxone S. pneumoniae – 14 days IV cefotaxime/ceftriaxone Refer to public health for contact tracing and chemoprophylaxis (single dose ciprofloxacin)

Answer 701

No specific treatment, supportive management only If concerns about encephalitis – IV aciclovir

Answer 702

Leading infectious cause of death in children – pneumococcal is associated with poorer outcomes than other causes Viral generally good prognosis, self-limiting Acute complications Sepsis, septic shock, DIC Cerebral oedema Raised ICP Seizures Bacterial 30-50% experience permanent neurological sequelae Hearing loss Seizures Motor deficit Cognitive impairment Hydrocephalus Visual disturbance Viral Headaches Cognitive and psychological issues

Answer 703

High flow oxygen (15L/min) via non-rebreather mask If signs of shock give IV fluid bolus 10ml/kg 0.9% saline, repeat if indicated, if requiring >2 fluid boluses discuss with PICU/anaesthetic team, consider intubation and ventilation and inotropic support IV cefotaxmine (50mg/kg dose) Correct metabolic derangements – hypoglycaemia, acidosis, hypocalcaemia, hypomagnesaemia, hypokalaemia, hypophosphataemia Treat coagulopathy

Answer 704

Flank mass Haematuria Proteinuria with or without oedema Polyuria/oliguria Hypertension

Answer 705

Lower (cystitis) affect bladder and urethra Upper (pyelonephritis) affects renal pelvic and kidneys

Answer 706

Two or more episodes of UTI with acute pyelonephritis One episode of UTI with acute pyelonephritis plus one or more lower UTI episode Three or more episodes of lower UTI

Answer 707

E. Coli (80-90%) Proteus mirabilis – boys Staphylococcus sprophyticus – adolescents of both sexes Urinary tract malformations – pseudomonas, staph epidermis Others – klebsiella, enterococcus

Answer 708

Structural urinary tract abnormalities Vesicoureteral reflux (VUR) Family history of UTIs or VUR Sexual activity in adolescent girls Immunosuppression Mostly due to incomplete bladder emptying due to: Infrequent voiding Vulvitis Hurried micturition Constipation VUR Neurogenic bladder

Answer 709

Neonates – jaundice, offensive smelling urine, haematuria During infancy – fever, vomiting, lethargy, irritability, poor feeding, failure to thrive, sepsis +/- shock Older children – frequency, dysuria, changes in continence, abdominal pain, loin tenderness, fever, malaise, vomiting, haematuria Upper tract features – fever, loin pain

Answer 710

Urgent microscopy (bacteriuria and pyuria) and culture in <3 months Urine dipstick MSSU with culture and sensitivity is gold standard

Answer 711

Atypical = septic/atypical organism/renal dysfunction DMSA – shows split of renal function MCUG – diagnoses vesicoureteral reflux Less than 6 months Atypical/recurrent – acute USS, DMSA and MCUG 4-6 months post-infection Otherwise USS in 6 weeks More than 6 months Atypical – USS acutely, DMSA at 4-6 months if less than 3 Recurrent – USS 6 weeks post-infection, DMSA at 4-6 months

Answer 712

IV antibiotics if <3 months Empirical antibiotics Lower – oral cefalexin Upper – oral cefalexin or IV ceftriaxone (fever >38 and significant systemic upset) If previous UTIs/known to nephrology or urology services look for previous culture results – may influence empiric prescribing Switch antibiotics as required guided by sensitivities of culture

Answer 713

Fluids Prevention/treatment of constipation Complete bladder emptying Good perineal hygiene in girls ?Prophylactic antibiotics – trimethoprim, only for specific cases

Answer 714

Renal scarring/damage Hypertension Renal insufficiency and failure Recurrent UTIs

Answer 715

Clean catch – gold standard is MSSU into sterile pot, may need to wait with pot while infant is with parent with nappy off Catheter specimen urine – sample taken from catheter Suprapubic aspiration – sterile procedure, USS bladder to check for urine, insert needle midline at abdominal crease (1cm above pubic bone)

Answer 716

Absent kidney: Bilateral renal agenesis = Potters syndrome Multicystic dysplastic kidney – irregular cysts with no normal renal tissue Duplex – two ureters Upper pole ureter tends to obstruct and can be associated with a ureterocoele Lower pole ureter tends to reflux – vesicoureteric reflux Horseshoe or pelvic kidney Abnormal caudal migration Horseshoe kidney fused in the midline usually at lower poles Obstruction – can cause bladder diverticulae, hydroureters, hydronephrosis Posterior urethral valves – bladder hypertrophy, unilateral or bilateral hydronephrosis, renal failure Vesicoureteric obstruction Pelviureteric obstruction

Answer 717

Heart failure Nephrotic syndrome Liver failure Malnutrition

Answer 718

UTI – most common Perineal irritation Trauma Acute nephritis Coagulopathy Stones Tumour Glomerular causes - acute or chronic glomerulonephritis, IgA nephritis, familial nephritis

Answer 719

Benign – transient/intermittent, orthostatic Pathological – persistent, associated with hypertension, macroscopic haematuria or renal dysfunction Glomerular disease – glomerulosclerosis, glomerulonephritis, nephrotic syndrome, familial haematuria, disease-related Tubular Physiological stress – strenuous exercise, exposure to cold, febrile illness, congestive heart failure (usually resolves after precipitating event has resolved)

Answer 720

Generalised oedema Heavy proteinuria (>2000mg/mmol) Hypoalbuminaemia (<25g/L)

Answer 721

M:F 2:1 6x incidence in Asians Peak incidence 2-5 years

Answer 722

Leaking of protein from damaged glomerulus – flattening of podocytes allows leaking Most common cause is minimal change disease Other causes – congenital nephrotic syndromes, focal segmental glomerulosclerosis, mesangiocapillary glomerulonephritis, systemic illnesses (HSP, diabetes, SLE, infections e.g. HIV, hepatitis, malaria)

Answer 723

Symptoms: Oedema – peripheral and facial Frothy urine Fatigue Poor appetite Recurrent infections Venous or arterial thrombosis (MI, DVT) due to hypercoagulability Signs: Oedema Xanthelasma/xanthoma Leukonychia SOB Signs of pleural effusion – dullness in lung bases Urinalysis: Proteinuria (++++) Frothy appearance

Answer 724

Urine dip Urinary protein:creatinine ratio Urine culture Bloods – FBC, U&Es, LFTs, complement (C3/4), varicella status, anti-streptolysin titre Blood pressure

Answer 725

High-dose steroids e.g. prednisolone Low salt diet Diuretics for oedema Albumin infusions if severe hypoalbuminaemia Antibiotic prophylaxis if severe – against pneumococcal

Answer 726

Hypovolaemia – can be extremely intravascularly deplete Infection Varicella zoster – can have severe infection, give VZV immunoglobulin or IV aciclovir Thrombosis

Answer 727

Haematuria Mild to moderate proteinuria (<3.5) Hypertension Oliguria Red cell casts in urine

Answer 728

Haematuria – either visible or detectable on urinalysis Oedema Hypertension Oliguria (<300ml/day)

Answer 729

Dietary salt and fluid restriction Antihypertensives Diuretics Steroids Immunosuppressives Antibiotics if post-streptococcal glomerulonephritis May need dialysis

Answer 730

Sudden reduction in renal function eGFR decrease by 75% or <35 Urine output <0.3ml/kg/hour or anuric for 12 hours

Answer 731

Daily weights Urine output Blood pressure Hydration status Bloods – U&Es, FBC, glucose, coagulation screen Consider – ASO titre, ANA, anti-DNA, anti-GBM, ANCA, hepatitis screen Urinalysis, urinary sodium, osmolality, microscopy, C+S Renal US

Answer 732

Pre-renal – increased urea, lower creatinine Renal – hypocalcaemia, hyperphosphataemia, creatinine increases daily Post-renal – hyponatraemia, hyperkalaemia, hyperchloraemic acidosis

Answer 733

Fluid management – accurate input/output, daily weights Correction of hypovolaemia Fluid overload – furosemide, fluid restriction Correct electrolyte abnormalities Hypo/hypernatraemia, hypocalcaemia, hyper/hypophosphataemia Hyperkalaemia – stabilise cardiac membranes (calcium gluconate), shift potassium into cells (IV insulin + glucose, nebulised salbutamol), remove potassium from body (IV furosemide, calcium resonium), consider haemodialysis Correct acidosis – slow sodium bicarbonate infusion Nutritional support Antihypertensives e.g. labetolol, nifedipine

Answer 734

Severe volume overload Severe hyperkalaemia Symptomatic uraemia Severe metabolic acidosis Removal of toxins

Answer 735

Anaemia – reduced EPO, iron deficiency Cardiovascular disease, hypertension Electrolyte disturbance – hyperkalaemia Reduced growth Infection Metabolic acidosis Osteoporosis Cognitive issues Urinary incontinence

Answer 736

Congenital renal disorders – renal agenesis, renal hypodysplasia, vesicoureteric reflux Genetic conditions – Alport syndrome, PKD, nephropathic cystinosis Post-infective – glomerulonephritis, haemolytic uraemic syndrome, interstitial nephritis Nephrotic syndrome – minimal change disease, diabetes Systemic diseases – diabetes, SLE Kidney trauma Obstruction Most common causes by age: 0-4 – congenital defects, genetic disease 5-14 – genetic disease, nephrotic syndrome, systemic disease 15-19 – glomerular disease (nephrotic syndrome, SLE)

Answer 737

BP consistently >95th centile for age and gender or height

Answer 738

Renin-dependent Renal parenchymal disease Renovascular Renal tumours Coarctation of the aorta Catecholamine excess Phaeochromocytoma Neuroblastoma Endocrine Congenital adrenal hyperplasia Cushing’s Hyperthyroidism Essential hyperthyroidism Obesity Pharmacological: Steroids Stimulant medications – methylphenidate, dexamphetamine Recreational drugs – methamphetamine, ketamine, cocaine Liquorice

Answer 739

Bloods – FBC, U&Es, creatinine, albumin, bicarbonate, calcium, phosphate, LFTs Plasma renin activity, aldosterone, plasma catecholamines Urinalysis, urine microscopy and culture, urinary protein to creatinine ratio, urinary catecholamines Renal US with doppler flow of the renal vessels, echo, ECG, CXR, DMSA Investigate severity of end organ damage – echo, fundoscopy, presence of proteinuria

Answer 740

Primary hypertension – lifestyle modification Hypertensive crisis – support airway, breathing, circulation, manage seizures if they occur labetalol/sodium nitroprusside infusion First-line (not in crisis) – ACE-I, ARB, thiazide diuretic or calcium channel blocker In new presentation BP should be reduced very slowly

Answer 741

Ensure safety of surroundings Unresponsive patient – check response to pain Call for help/activate 2222 Open airway – for infant <1 keep head in line with body (neutral position), for >1 do head-tilt chin-lift or jaw thrust Assess for signs of life (breathing, colour, temperature) for 1 minute If no signs of life or any doubt – 5 rescue breaths No signs of life during rescue breaths – begin chest compressions, 15 compressions then 2 breaths If return of spontaneous circulation – require urgent medical assessment (A-E)

Answer 742

Lethargy Feeding problems, breathless on feeding Sweating Failure to thrive Recent excessive weight gain/oedema Cyanotic attacks Tachycardia and tachypnoea Hepatomegaly

Answer 743

Diuretic e.g. furosemide (check U&Es, consider potassium supplements unless spironolactone given) Oral digoxin (contraindicated in tetralogy of Fallot) Oxygen Morphine for agitation Sit up Treat precipitating event

Answer 744

Strip off affected clothing, if small area immerse in cold running water or add ice to a basin of water, until cool Cover area in a clean dry sheet, towel or dressing

Answer 745

Airway – soot in nostrils? IV access Appropriate analgesia e.g. morphine Plasma expanders if >10% of surface affected to prevent shock and renal failure – colloid or Ringer’s solution, blood if full thickness Weigh Hb check for early haemoconcentration and subsequent anaemia in full thickness Monitor urine output, blood and urine biochemistry, beware of renal failure Percentage area of burn or % total body surface area decides if child needs admission Consider non-accidental injury, especially in pre-school child

Answer 746

Superficial – no blisters Superficial dermal – good blood supply, pink, blistered Deep dermal – altered sensation but not painless, blisters well demarcated with speckled appearance Full thickness – painless, white/brown/dry

Answer 747

All burns >3% need to be referred for assessment All full-thickness burns >1% should be referred for assessment >10% needs IV fluids >30% consider PICU

Answer 748

At home – induce vomiting with fingers (except with volatile hydrocarbons or caustics or when child is unconscious) Establish what has been taken, amount, when, how Consider non-accidental ingestion Induce vomiting with syrup of ipeacac 15ml + glass of water, within 6 hours of ingestion, up to 24 hours for salicylates, repeat after 20 minutes if no result Contraindicated in caustic, petrol or white spirit ingestion Gastric lavage with protected airway if unconscious Specific antidotes e.g. acetyl cysteine for paracetamol, dexferrioxamine for iron, naloxone for opiates General measures – monitor airway, circulation, temperature, fluid balance, blood glucose

Answer 749

Sudden and unexpected death after which a properly performed autopsy fails to reveal a major cause of death Predominantly in 1 month to 1 year old More common in boys, low birth weight, winter, adverse social and domestic conditions

Answer 750

May be appropriate to attempt resuscitation If history and examination do not suggest prior illness and NAI not suspected parents should be told SIDS is likely Explain procurator fiscal duty to investigate and need for police statement, possibly identification of body and visit home to collect evidence Parents may wish to hold baby Inform family doctor, health visitor and social services Suppress lactation if breastfeeding

Answer 751

Impaired skin barrier and dysregulated immune system Genetic component – mutation in FLG gene which encodes filaggrin protein, part of the stratum corneum Impairment of epidermis allows environmental allergens penetration, entry of pathogens and water loss

Answer 752

Improving the skin barrier – bathing with emollients (not soap), liberal and frequent application of emollients (greasiest formulation tolerated) Avoidance of irritants and allergens – soap, perfume, allergens specific to child e.g. food, heat/sweating Reduction in itch/scratching – moisturise with emollients, sedative anti-histamines, cotton garments/scratch mitts, keep nails short Topical steroids – used in short burst on active areas, for flares or on chronic patches Body – medium potency for 7 days then 2-3 weekly to chronic areas, if not controlled increase to potent if >1 Face – 1% hydrocortisone safe for daily use (except eyelids) when limited to 3 nights weekly

Answer 753

Thinning of skin – bruising, tearing, stretch marks, telangiectasia Depending on location and strength – systemic absorption Avoid around eyes, genital region

Answer 754

Mild – hydrocortisone 1% Moderate – betamethasone valerate 0.025%, clobetasone butyrate 0.05% Potent – betamethasone 0.1% Very potent – clobetasol propionate 0.05%

Answer 755

Bacterial infection with staph aureus – antibiotics HSV infection – eczema herpeticum, medical emergency which presents with fever, lymphadenopathy, malaise and widespread lesions, can lead to hepatitis and DIC, treat with oral or IV aciclovir Psychosocial problems

Answer 756

Due to friction and contact with urine and faeces, can lead to candida and bacterial overgrowth Risk factors: Delayed changing of nappies Irritant soap products and vigorous cleaning Poorly absorbent nappies Diarrhoea Oral antibiotics Pre-term

Answer 757

Sore, red, inflamed skin in nappy area – glazed erythema Spares skin creases Distressed infant Can lead to erosions and ulceration

Answer 758

Candida – rash extends into skin folds, larger red macules, well-demarcated scaly border, circular pattern to rash, satellite lesions, associated with oral thrush

Answer 759

Switch to highly absorbent nappies Change nappy and clean skin as soon as possible after wetting/soiling Use water or gentle alcohol-free products for cleaning Ensure nappy area is dry before replacing the nappy Maximise time not wearing a nappy Greasy emollient to repair skin barrier Infection with candida/bacteria – anti-fungal cream (clotrimazole) or antibiotic (fusidic acid cream or oral flucloxacillin)

Answer 760

Irritation of sensitive thin skin around vulva and vagina in pre-pubescent girls Vagina prone to colonisation and infection with bacteria spread from faeces Less common after puberty, oestrogen keeps skin and vaginal mucosa healthy and resistant to infection Can be exacerbated by: Wet nappies Use of chemicals/soaps Tight clothing Poor toilet hygiene Constipation

Answer 761

Irritation of sensitive thin skin around vulva and vagina in pre-pubescent girls Vagina prone to colonisation and infection with bacteria spread from faeces Less common after puberty, oestrogen keeps skin and vaginal mucosa healthy and resistant to infection Can be exacerbated by: Wet nappies Use of chemicals/soaps Tight clothing Poor toilet hygiene Constipation

Answer 762

Soreness Itching Erythema around labia Vaginal discharge Dysuria Constipation Leukocytes but no nitrites on dipstick

Answer 763

Avoid washing with soap and chemicals Avoid perfumed or antiseptic products Good toilet hygiene, wipe from front to back Keep area dry Emollients Loose cotton clothing Treat constipation where applicable

Answer 764

Localised form of eczema with will demarcated circular plaques which are often crusted and weeping due to bacterial superinfection

Answer 765

Emollient and bathing regime as for atopic eczema Generally requires potent steroid for 7-10 days to settle flare If crusted/weeping use topical steroid combined with anti-bacterial

Answer 766

Peri-orbital eczema caused by drying of the lips in atopic children, causing then to lick them which irritates the skin, causing an eczema which dries the skin further Worse in winter

Answer 767

Greasy emollients If red – topical steroid with anti-fungal e.g. trimovate Consider tacrolimus if requiring trimovate more than once per month

Answer 768

Hypopigmentation with dry rough skin on the cheeks of atopic children, 4-12 years, mainly in those with darker skin tones

Answer 769

Emollients Sunscreen – prevent surrounding skin tanning which makes it more obvious

Answer 770

Plantar surface of anterior third of foot and sometimes first toe affected by erythema, hyperkeratosis and fissuring Not itchy Glazed appearance Plantar arch spared – no friction Flares intermittently and continues until puberty where it settles spontaneously

Answer 771

Avoid occlusive footwear, synthetic socks Wear two pairs of cotton socks or thick towelling socks to improve absorption of sweat Aluminium chloride powder can reduce sweating Urea-based emollients to help hyperkeratosis and fissuring Topical steroids suppress flares

Answer 772

Superficial bacterial skin infection usually caused by staphylococcus aureus (occasionally strep pyogenes) Contagious, spread via direct contact with sores or fluid from sores

Answer 773

Non-bullous – around nose/mouth, exudate forms golden crust, don’t usually cause systemic illness Bullous – caused by staph aureus producing epidermolytic toxins, causes 1-2cm fluid filled vesicles to form on skin, which grow then burst, leaving a golden crust, may be feverish and generally unwell, more common in neonates/children <2

Answer 774

Non-bullous – antiseptic cream (hydrogen peroxide 1%) first-line, then topical antibiotic (fusidic acid) Bullous – oral antibiotic (usually flucloxacillin), may need IV if unwell or high risk for complications Hygiene measures – avoid sharing towels/bathing with other children Off school until lesions have healed or on antibiotics for at least 48 hours

Answer 775

Cellulitis Sepsis Scarring Post-strep glomerulonephritis Staphylococcal scalded skin syndrome Scarlet fever

Answer 776

Caused by molluscum contagiosum virus – poxvirus, DNA virus Spread by direct contact or sharing towels/bedsheets

Answer 777

Small, flesh-coloured papules with a central dimple, appear in crops of multiple lesions in a localised area Usually age 4-9, more common in children with eczema as scratching allows for spread

Answer 778

Usually don’t require any intervention, If immunocompromised, very extensive lesions or in problematic areas may have specialist treatment e.g. topical benzoyl peroxide, imiquimod, surgical removal, cryotherapy Avoid sharing towels or close contact with others Take approx 18 months to resolve

Answer 779

Mites – sarcoptes scabiei Burrow under skin causing infection and itch, can lay eggs in the skin leading to further infestation and symptoms

Answer 780

Extremely itchy red spots with burrow tracks, may only be visible on soles of feet in children Classically between finger webs

Answer 781

Permethrin cream – apply to whole body, leave on for 8-12 hours then wash off Repeat a week later to kill any remaining eggs Oral ivermectin can be used for difficult to treat/crusted scabies Need to treat whole household Wash all clothes, bedsheets and towels

Answer 782

Fungal scalp infection e.g. trichpyton tonsurans More common in African and Caribbean countries

Answer 783

Diffuse scale to patchy alopecia with black dots (broken hairs) or widespread pustules with associated lymphadenopathy Boggy swelling with overlying crust, can breakdown to leave large ulcer which scars

Answer 784

Diagnosis – microscopy and culture of scrapings Ketoconazole shampoo – prevents spread Oral griseofulvin – licensed, causes nausea Terbinafine (unlicensed) – more effective Review after 4 weeks and rescrape/continue treatment if still clinically affected

Answer 785

Acute: Allergic reaction Irritant contact Medications Viral infections Insect bites Dermatographism Chronic: Chronic idiopathic urticaris Chronic inducible urticaria Autoimmune urticaria

Answer 786

Antihistamines Chronic urticaria - fexofenidine Severe flares - oral steroids

Answer 787

Poor vision in a structurally normal eye During the first 7 years of visual development, if one eye provides poorer image to brain than other then brain favours sharper eye and other eye ‘turns off’, leading to visual loss which is potentially reversible if treated

Answer 788

Reduced view through eye e.g. ptosis, cataract Unequal focus e.g. one eye is more long or short sighted (anisometropia) Misalignment of eyes e.g. squint (strabismus)

Answer 789

Usually idiopathic Refractive error in one or both eyes, especially hypertropia (long-sightedness) – accommodative esotropia Cataract Neurodevelopmental conditions – cerebral palsy, Down syndrome Hydrocephalus Cerebral palsy Space occupying lesions, e.g. retinoblastoma Trauma

Answer 790

2 months – able to fix and follow Binocular vision established about 3 months – intermittent deviation of eyes common in healthy neonates 5-8 months – depth perception develops, begin to reach for objects in front of them, recognise parents and smile at them, colour vision good but still developing

Answer 791

Esotropia – inward, affected eye towards nose Exotropia – outward, affected eye towards ear Hypertropia – upward Hypotropia – downward Can be constant or intermittent Accommodative – more obvious/occurs when child is accommodating (focusing on an object), typically when child is hypermetropic, can be reduced/corrected if refractive error is corrected with glasses Non-accommodative – no significant hypermetropia or if hypermetropia present there is no change in squint with glasses

Answer 792

General eye inspection Corneal light reflex (Hirschberg test) – assess symmetry Eye movements – both eyes and individually Cover test – focus on something, cover one eye then the other, watch for deviation when eye is uncovered

Answer 793

Need to treat before 8 years old while visual fields are still developing, delayed treatment increases risk of squint becoming permanent and causing amblyopia Conservative – observation, occlusion, orthoptic exercises Glasses – correct hypermetropia Surgery

Answer 794

5-20% babies have congenital obstruction of nasolacrimal duct opening into nose Causes sticky watery eye, no conjunctivitis Majority resolve spontaneously by age 1 Parents massage to encourage drainage, regular cleaning of discharge from lids

Answer 795

Redness, itching/burning, swelling, tearing, stringy discharge Seasonal variance – worse in spring/summer with increased pollens

Answer 796

Eye drops – anti-histamine (e.g. cetirizine), NSAID, steroid Oral antihistamine – fexofenadine, cetirizine, especially if other allergic symptoms

Answer 797

Cataract Retinal detachment Retinopathy of prematurity Intraocular infection – endophthalmitis Retinal vascular abnormality – Coat’s disease Toxoplasmosis Uveitis Retinoblastoma

Answer 798

Urgent ophthalmology referral Could indicate a sight- (cataract) or life-threatening (retinoblastoma) pathology

Answer 799

Genetic component – RB1 gene Mutation in germline cells causes bilateral disease, in somatic cells causes unilateral disease Most unilateral tumours are sporadic and non-hereditary Cell of origin – cone photoreceptors in retina

Answer 800

Leukocoria – one or multiple nodular, white/cream masses with increased vascularisation Strabismus Rarely – pain and inflammation Family history of blindness, eye tumours, childhood malignancies

Answer 801

Ultrasound CT/MRI May need LP/bone marrow biopsy to determine extent of disease

Answer 802

Enucleation – eyeball removed Globe salvaging techniques – systemic chemotherapy, intravitreal chemotherapy

Answer 803

Genetic – syndromal (Cri-du-chat, Down’s, Patau’s, Edward’s, Turner’s) and non-syndromal (more commonly) Intrauterine infections – rubella, toxoplasmosis, varicella, herpes, CMV Metabolic conditions – galactosaemia, Lowe syndrome, diabetes

Answer 804

Conservative – if small and not affecting vision, observation with monitoring and pharmacologic pupillary dilatation/occlusion of the other eye Surgical – lensectomy (<1) with primary posterior capsulotomy and anterior vitrectomy and future lens implant with glasses/contact lenses in meantime, if older can do lensectomy and lens implant

Answer 805

Reactive cervical lymphadenopathy – most likely Congenital and developmental lumps – thyroglossal cyst, branchial cyst, dermoid cyst, lymphangioma, infantile haemangioma, venous malformation Sialadenitis Thyroid – thyroglossal duct cyst, thyroid tumour, goitre Neoplastic – malignant lymphadenopathy, benign connective tissue tumour, salivary gland tumour, rhabdomyosarcoma Skin infection

Answer 806

Recurrent tonsillitis: 7 or more in 1 year 5 per year for 2 years 3 per year for 3 years Recurrent tonsillar abscesses (2 episodes) Enlarged tonsils causing difficulty breathing, swallowing or snoring

Answer 807

Adenoid – nasal obstruction, recurrent sinusitis, post-nasal drip, sleep apnoea, chronic runny nose, halitosis, chronic cough Tonsils – sleep apnoea, dysphagia

Answer 808

Topical nasal steroid sprays with oral non-sedating antihistamine

Answer 809

Physiological hypertrophy of the tonsils and adenoids, mostly in children aged 2-7

Answer 810

Poor nights sleep Snoring Apnoeic episodes during sleep Restless/sweaty during the night Tired during day Behavioural problems/poor sleep performance

Answer 811

Sleep studies (overnight pulse oximetry or full 12-channel polysomnography) Adenoidectomy and tonsillectomy are curative for most

Answer 812

Can define childhood/adolescent behavioural problems as externalising or internalising Internalising – internalise negative emotions including sadness, guilt, fear, depression, and anxiety, leading to problems e.g. social withdrawal and eating disorders Internalising behaviour is over-controlled and self-directed Externalising behaviour – under-controlled, impulsive or aggressive behaviours directed towards others/environment, e.g. conduct disorders (anti-social personality disorder), pyromania, kleptomania, ADHD

Answer 813

Characterised by a disregard for others which interferes with ability to lead a normal life Disruptive and aggressive behaviours If in the home – oppositional defiant disorder Involvement in violent physical fights Stealing or lying with no sign of remorse Refusal to follow rules, breaking the law, truancy from school Risk-taking behaviour e.g. drugs, sex

Answer 814

Trauma- and stressor-related condition of early childhood caused by social neglect and maltreatment Difficulty forming emotional attachments to others, decreased ability to experience positive emotions, difficulty seeking or accepting physical or emotional closeness Behaviourally unpredictable, difficult to console, difficult to discipline Erratically fluctuating moods Strong desire to control environment and make their own decisions

Answer 815

Generalised anxiety disorder – excessive worry about a variety of things, perfectionism, seek constant approval or reassurance from others Panic disorder – unexpected panic attacks Separation anxiety – persists past normal age or is excessive compared to other children, anxiety when away from home or parents, worry about something bad happening when separated Social anxiety disorder – intense fear of social and performance situations Selective mutism – refuse to speak in situations where talking is expected or necessary, can be talkative at home Specific phobias – intense, irrational fear of a specific object or situation Obsessive compulsive disorder – unwanted and intrusive thoughts (obsessions) and compulsions (repeatedly performing rituals and routines to ease anxiety) Post-traumatic stress disorder – after experiencing or witnessing a traumatic/life-threatening event, intense fear/anxiety, emotionally numb, avoidance of reminders

Answer 816

Tics – sudden repetitive movements or sounds, semi-voluntary/unvoluntary (not strictly involuntary), voluntary response to irresistible urge (premonitory sensation) which can be suppressed for a time, tic feels like relieving tension (like scratching an itch) Children less able to suppress tics than adults Tourette syndrome – motor and vocal tics, symptoms for at least 1 year Persistent motor or vocal tic disorder – motor or vocal tics (not both) for at least 1 year Provisional tic disorder – symptoms for less than a year Tic-like behaviour – functional disorder with tic-like symptoms, female preponderance, older onset

Answer 817

Child’s refusal to eat certain food groups, textures etc. for at least one month, which causes the child to not gain enough weight, grow naturally or causes developmental delay May vomit, gag or choke while eating certain foods React negatively at mealtimes to attempts at feeding Associated with GI motility disorders, oro-motor dysfunction, food allergies, sensory problems, reflux

Answer 818

Children (Scotland) Act 1995 and Children and Young People (Scotland) Act 2014

Answer 819

If child doesn’t have capacity and doesn’t go against child’s best interests yes If child has capacity and refuses or it goes against child’s best interests (e.g. risk of harm to child) no

Answer 820

If over 16 capacity is assumed Can use Gillick competence to assess under 16s, assess: Age, maturity and mental capacity Understanding of issue and what it involves – advantages, disadvantages and potential long-term impact, alternative options Ability to explain rationale around reasoning and decision making Fraser guidelines – for contraception and sexual health To give treatment without parents consent/knowledge if young person: Cannot be persuaded to inform parents Understands advice given Physical or mental health likely to suffer if they do not receive advice/treatment In their best interest to receive advice/treatment without parent’s consent Is very likely to continue having sex with or without contraceptive treatment Child protection – if under 13 always need child protection referral, if concerned about sexual exploitation/abuse/grooming

Answer 821

Congenital defect which causes urethral meatus to be abnormally located, usually ventrally and proximally on penis

Answer 822

Related to location of meatus Glandular (on glans penis) Coronal Shaft – distal, mid, proximal Scrotal Perineal

Answer 823

Ventral opening of urethral meatus Chordee – ventral curvature of penis Dorsal hooded foreskin

Answer 824

Paediatric urology referral Mild cases – no treatment Surgery (urethroplasty), usually at 3-4 months, correct position of meatus and straighten penis Do not have circumcision until discussed with urologist (may need foreskin for reconstruction) Complications Difficulty directing urination Cosmetic and psychological concerns Sexual dysfunction

Answer 825

Inherited, usually autosomal dominant Affects peripheral motor and sensory nerves

Answer 826

Pes cavus Distal muscle wasting causing ‘inverted champagne bottle legs’ Weakness in lower legs, particularly loss of ankle dorsiflexion Weakness in hands Reduced tendon reflexes Reduced muscle tone Peripheral sensory loss

Answer 827

No treatment for the underlying disease, supportive management to maintain function Physiotherapy Occupational therapy Podiatry - orthoses Orthopaedic surgery – correct disabling joint deformities

Answer 828

Autosomal recessive condition which causes progressive loss of motor neurons leading to muscle weakness

Answer 829

Type 1 – onset in first few months of life, usually death within 2 years Type 2 – onset within first 18 months of life, most never walk, survive to adulthood, most common Type 3 – onset >1, walk then lose the ability, respiratory muscle less affected, life expectancy close to normal Type 4 – onset in 20s, most retain ability to walk short distances but may need wheelchair for mobility, fatigued with everyday tasks, respiratory muscles and life expectancy not affected

Answer 830

No cure, MDT input Physio Respiratory support – NIV, tracheostomy with mechanical ventilation (type 1) PEG feeding

Answer 831

Involuntary wetting during sleep Generally considered normal in <5 Classification: Primary bedwetting without daytime symptoms – never achieved sustained continence at night, no daytime symptoms Primary bedwetting with daytime symptoms – never achieved sustained continence at night and has daytime symptoms (urgency, frequency, wetting, straining, poor urinary stream, dysuria) Secondary bedwetting – after child has previously been dry at night for more than 6 months

Answer 832

Primary bedwetting without daytime symptoms – sleep arousal difficulties, polyuria, bladder dysfunction (overactive or small capacity) Primary bedwetting without daytime symptoms – overactive bladder, structural abnormalities (e.g. ectopic ureter), neurological disorders (neurogenic bladder), UTI, chronic constipation Secondary bedwetting – often has underlying cause e.g. diabetes, UTI, constipation, psychological problems, family problems

Answer 833

Explain it is not the child’s fault Reassure if younger than 5 that this is normal and usually resolves without treatment Lifestyle advice – don’t restrict fluid intake, avoid caffeinated drinks, empty bladder regularly and before sleep, don’t regularly wake child to go to toilet Positive reward systems Short-term – desmopressin Long-term – enuresis alarm (first-line), tricyclics or antimuscarinics (second-line)

Answer 834

Within 1 hour if any of the following risk factors: Suspicion of NAI Post-traumatic seizure without history of epilepsy On initial ED assessment GCS <14 or for children under 1 year GCS <15 At 2 hours after injury, GCS 5cm on head Within 1 hour if more than 1 of the following risk factors: Loss of consciousness lasting >5 minutes (witnessed) Abnormal drowsiness Three or more discrete episodes of vomiting Dangerous mechanism of injury Amnesia (antegrade or retrograde) lasting >5 minutes If on anticoagulant treatment perform CT within 8 hours of injury

Answer 835

Colour Green (low risk) – normal colour of skin, lips and tongue Amber (intermediate risk) – pallor of skin, lips or tongue Red (high risk of serious illness) – pale, mottled, ashen, or blue skin, lips, or tongue Activity Green – responding normally to social cues, content and smiling, stays awake or awakens quickly, strong normal cry or not crying Amber – not responding normally to social cutes, waking only with prolonged stimulation, decreased activity, not smiling Red – no response to social cues, appears ill to a healthcare professional, unable to rouse or if roused does not stay awake, weak, high-pitched or continuous cry Respiratory Green – normal breathing Amber – nasal flaring, tachypnoea (6-12 months >50, >12 months >40), oxygen sats <95% in air, crackles on chest auscultation Red – grunting, tachypnoea >60, moderate or severe chest indrawing Hydration and circulation Green – normal skin tugor and eyes, moist mucous membranes Amber – poor feeding, dry mucous membranes, CRT >3 seconds, reduced urine output, tachycardia (>160 under 1, <150 1-2 or >140 2-5) Red – reduced skin turgor Other Green – no amber/red signs Amber – fever >5 days, rigors, temperature >38 in children 3-6 months, swelling of limb or joint, non-weight bearing or not using a limb Red – temperature >39 in 3-6 months, non-blanching rash, bulging fontanelle, neck stiffness, focal neurological signs, focal seizures, status epilepticus