Paediatrics Flashcards

Question

How does viral induced wheeze differ to asthma?

Answer 1

Usually presents before age 3, no atopic history, only occurs during viral infections, usually resolves around age 5.

Answer 2

Symptoms - Coryzal symptoms - runny/blocked nose, sneezing, cough, sore throat Fever Poor feeding SOB Wheezing Lethargy/fatigue Signs - Signs of respiratory distress (accessory muscle use, nasal flaring, intercostal/subcostal recession Tachypnea Tachycardia Expiratory wheeze on auscultation

Answer 3

Diagnosis is clinical, other investigations done if no response to therapy. Same as acute management. Role of oral corticosteroids is controversial.

Answer 4

Anaphylaxis Inhaled foreign body Bronchiolitis Asthma Pneumonia

Answer 5

Bronchiolitis is the most common severe respiratory infection of infancy and describes the inflammation of the bronchioles (small airways).

Answer 6

1. Most commonly affects children under the age of 2, particularly those 3-6 months 2. Has a distinct seasonal pattern (winter months Nov-Mar) or wet season in temperate climates 3. Almost exclusively a disease of infancy (75% affected are under 1, 95% under 2) 4. Self limiting in most cases

Answer 7

RSV (most common cause) Rhinovirus Human bocavirus Adenovirus Human metapneumovirus Parainfluenza Influenza

Answer 8

1. Infants under 2 years, especially under 6 months 2. Premature birth (especially under 32 weeks) 3. Low birth weight 4. Male sex 5. Congenital heart disease 6. Chronic/congenital lung disease 7. Parental smoke exposure 8. Immunodeficiency

Answer 9

Symptoms - Dry cough Wheezing Coryzal symptoms (especially nasal congestion - rhinitis) Low grade fever Irritability Apnoea Poor feeding Signs - Tachypnoea Fine end-inspiratory crepitations ± wheeze with prolonged expiration Respiratory distress (retractions, grunting, nasal flaring, head bobbing, tracheal tug) Signs of hypoxia

Answer 10

Apnoea (observed or reported) Child appears seriously unwell Severe respiratory distress (marked recession, grunting etc. resp rate >70, O2 sats below 92%) Central cyanosis Age under 3 months or previous existing medical condition Clinical dehydration or <50-75% of oral intake

Answer 11

Generally supportive care: Antipyretics Hydration - maintain adequate oral fluid intake Supplementary oxygen - sats below 92% Keep child comfortable Advanced care: NG tube or IV fluid supplementation Ventilatory support (High flow humidified oxygen, CPAP or mechanical ventilation) Palivizumab - monoclonal antibody that targets RSV, monthly injection given to high risk babies

Answer 12

Most cases resolve within 2 weeks Secondary infection Acute respiratory distress syndrome Bronchiolitis Obliterans (rare)

Answer 13

Caused by a variety of viruses and bacteria. In around 50% of cases a causative organism is found. Most common causes vary by age: 1. Newborns - Streptococcus B, gram negative enterococci and bacilli, chlamydia trachomatis (organisms from mothers genital tract). 2. Infants and young children - RSV (very common), bacterial causes include (Strep pneumoniae, haemophilus influenzae, bordetella pertussis. 3. Children over 5 - Mycoplasma pneumoniae, Strep pneumoniae, chlamydia pneumoniae are the most common (all bacterial). 4. Mycobacterium TB can be a cause in all ages Hib vaccine has reduced HI causes.

Answer 14

Low birthweight, premature birth, overcrowding, chronic health conditions, below age 5, immunocompromised, not vaccinated, non breast-fed.

Answer 15

Symptoms: usually preceded by URTI Cough (Wet, productive. May not be present) Fever SOB Lethargy Poor feeding Localised pain (Neck, chest, abdomen - pleural irritation, highly suggestive of bacterial pneumonia) Signs: Tachypnoea Respiratory distress (nasal flaring, accessory muscle use, grunting, retractions) Wheezing (more common in viral) Chest hyperinflation (more common in viral) Increased respiratory rate (most sensitive sign) Oxygen saturation (may be decreased) Consolidation (Dullness to percussion - not always present) Cyanosis Agitation and confusion (signs of hypoxia)

Answer 16

1. Chest X-ray - May confirm diagnosis (can’t differentiate between bacterial and viral). In a small number of children the pneumonia may cause a pleural effusion (blunting of costophrenic recess on CXR). Some may develop into empyema. 2. Nasopharyngeal aspirate - can identify viral causes in younger children 3. Sputum cultures 4. Viral PCR 5. Throat swabs - for bacterial cultures 6. Capillary blood gas analysis - to detect respiratory/metabolic acidosis 7. Blood tests - FBC, U&E, CRP, ESR etc

Answer 17

Newborns - require broad spectrum IV antibiotics Older infants - can be managed with oral amoxicillin, broader spectrum abx such as co-amoxiclav are used in complicated/unresponsive disease Age >5 - Amoxicillin first line, second line - oral macrolide such as erythromycin/clarithromycin (or macrolides alone in penicillin allergy) Additional: O2 therapy (if hypoxic), analgesia (if required), IV fluids (when dehydrated). Persistent fever after 48 hours means drainage is required for parapneumonic effusions

Answer 18

Further investigations in a child with recurrent LRTIs to detect lung and immune disorders. E.g. Sweat test - CF, FBC - WBCs, serum immunoglobulin tests. IgG to previous vaccines to test for immunoglobulin class-switch recombination deficiency. (Unable to convert IgM to IgG.

Answer 19

Also known as supraglottitis, is a life threatening condition characterised by inflammation and swelling of the epiglottis and surrounding structures. The swelling may completely obstruct the airway.

Answer 20

Historically epiglottitis affected children aged 2-6 years old but the average presentation has increased in children 6-12 years old. - Hib vaccination has made it extremely rare - Now more common in adults - Males and caucasians more affected

Answer 21

Haemophilus influenza type B - most common pathogen before vaccination Other causes Bacterial - Strep pneumoniae, Strep pyogenes, Staph aureus (including MRSA), Neisseria meningitidis Viral - Rarely; Parainfluenza, influenza B, human herpes virus Fungal - Rare, consider in immunocompromisation. Candida, Aspergillus Non infectious - Thermal injury, caustic ingestion

Answer 22

Non vaccination with Hib Immunocompromisation Male Middle age

Answer 23

Symptoms - Sore throat Drooling Distress - restless/irritable Dysphagia Difficulty breathing Muffled/hoarse voice High fever Signs - Tripod position - leaning forward, hands on both knees Stridor Tachypnoea Hypoxia Toxic looking child

Answer 24

Clinical diagnosis, do not delay treatment if suspected Lateral neck X-ray - may show ‘thumbprint sign’ Laryngoscopy - shows swelling of the supraglottic structures Other investigations - FBC - leukocytosis Blood/epiglottitis cultures - establish causative organism

Answer 25

Croup - presence of a barky cough Peritonsillar abscess Foreign body aspiration Tonsillitis Anaphylaxis Bacterial tracheitis

Answer 26

Immediate priority is to secure the airway. Do not distress the patient. Intubation is rarely required - only if ongoing risk of upper airway closure Tracheostomy - if child cannot be safely intubated Plus IV broad spectrum antibiotics - Cefotaxime, ceftriaxone and vancomycin if MRSA suspected Consider supplemental oxygen - in a stable patient Consider IV corticosteroids - Dexamethasone Consider IV fluids Analgesia

Answer 27

1. Cystic fibrosis (CF) is a genetic disorder of the CFTR gene located on chromosome 7. 2. Over 2,000 mutations of the CFTR gene have been identified, with the most common being ΔF508. 3. Inheritance is autosomal recessive: both parents must be carriers for the child to be affected.

Answer 28

The CFTR protein functions as a chloride channel in epithelial cells. Mutations cause: 1. Impaired chloride and sodium ion transport. Promoting water reabsorption (water remains in cells). 2. Reduced water content in mucus, making it thick and sticky. 3. Accumulation of mucus in the respiratory, digestive, and reproductive systems. 4. In the lungs, thick mucus obstructs the airways, leading to chronic infection and inflammation. 5. In the pancreas, mucus blocks enzyme release, leading to malabsorption and malnutrition.

Answer 29

Chronic wet cough, sputum production. Recurrent respiratory infections (e.g., Pseudomonas aeruginosa). Wheezing and shortness of breath. Nasal polyps/chronic sinusitis Finger clubbing due to chronic hypoxia

Answer 30

Meconium ileus in neonates (first stool obstruction). Failure to thrive, poor weight gain. Steatorrhoea (fatty stools) due to pancreatic insufficiency. GORD Liver disease due to biliary cirrhosis

Answer 31

Male infertility - bilateral absent vas deferens Growth delay - due to chronic malabsorption Reduced bone density Salty sweat

Answer 32

1. Newborn blood spotting test - increased immunoreactive trypsinogen 2. Sweat test - gold standard. Elevated Cl >60mmol/L 3. Genetic testing Monitoring tests: Sputum cultures Pulmonary function - spirometry DEXA scan - osteoporosis Blood tests - HBA1c, blood glucose

Answer 33

Resp: Chest physio B2 agonist + Anticholinergic inhalers (salbutamol, atrovent) Exercise Mucolytics - nebulised dornase alfa, hypertonic saline Anti-inflammatories - nebulised corticosteroids, oral NSAIDs Prophylactic Abx - oral flucloxacillin, nebulised tobramycin (for pseudomonas) Lung transplant (end stage) Nutrition: Pancreatic enzyme replacement - CREON tablets High calorie diet + supplemental vitamins Novel: CFTR modulators - can partially restore function in mutated CFTR. (Ivacaftor, lumacaftor, tezacaftor, and elexacaftor)

Answer 34

Complications - CF related diabetes, liver disease, osteoporosis, vit d deficiency. Fertility treatment - sperm extraction Growth and nutrition monitoring Psychological therapy + genetic counselling

Answer 35

Respiratory - Bronchiectasis, pneumothorax, haemoptysis, resp failure, allergic bronchopulmonary aspergillosis GI - Pancreatic insufficiency/recurrent pancreatitis, liver disease, distal intestinal obstruction, meconium ileus, GI cancers, rickets Endo - CF diabetes, developmental/puberty delay Male + female sterility

Answer 36

Dependant on severity, genetic mutation and treatment adherence. - Life expectancy 40-50, median is 47. - Most males are sterile - Death usually due to resp complications

Answer 37

Most common congenital abnormality of the larynx, where part of the supraglottic larynx (above vocal cords) collapses inwards on inspiration causing partial airway obstruction and chronic stridor.

Answer 38

1. Neuromuscular immaturity - floppiness of the supraglottic structures (arytenoid cartilage etc) 2. Shortened aryepiglottic folds (at entrance of airway) 3. Neuromuscular control abnormality - contributes to symptoms

Answer 39

Male sex Premature birth GORD - not clear whether a cause or complication

Answer 40

- Presents in first weeks to months (peak at 6 months) - Inspiratory stridor - high pitched, crowing. Worse when lying, feeding, crying. - Feeding difficulties/failure to thrive (rare) - Resp distress, cyanosis, apnoea (rare)

Answer 41

1. 99% of cases resolve by 18-24 months - symptom relief e.g neck hyperextension during episodes 2. Surgical intervention - only if severe resp distress. Tracheostomy and corrective surgery (e.g laryngoplasty)

Answer 42

Surfactant deficiency in preterm infants causing alveolar collapse and respiratory distress. Key Points: Most common in preterm infants, especially those born <28 weeks. Surfactant production reaches sufficient levels around 32-34 weeks. Symptoms: Tachypnoea, nasal flaring, grunting, cyanosis, and retractions soon after birth. Diagnosis: Clinical and CXR - 'ground glass appearance' Management: Antenatal steroids (given to mothers at risk of preterm delivery) reduce risk. Surfactant replacement therapy (intra/endotracheal instillation) and CPAP or mechanical ventilation. Supportive care (temp, nutrition, infection)

Answer 43

Occurs when a newborn inhales meconium-stained amniotic fluid into the lungs prior to or during birth, leading to airway obstruction and inflammation. Key Points: More common in term/post-term infants. Signs of post maturity (dry, peeling skin, brown/green skin nails) Symptoms: Respiratory distress, cyanosis, and tachypnoea shortly after birth. Risk factors: Maternal HTN, >42 weeks gestation, traumatic birth, maternal infection, oligohydramnios Diagnosis: Clinical Chest X-ray - may show patchy infiltrates, hyperinflation, and sometimes pneumothorax. Blood gas + cultures Management: Oxygen, ventilatory support (CPAP), and in severe cases, extracorporeal membrane oxygenation (ECMO). Other treatments - Abx, surfactant therapy Avoid deep suctioning unless the infant is not vigorous at birth. Prognosis: Most cases improve with treatment, but severe cases can lead to persistent pulmonary hypertension of the newborn (PPHN).

Answer 44

Presence of ASDs create a left (higher pressure) to right (lower) shunt between the atria. Increased volume in the right atria and ventricle causes hypertrophy due to increased workload. This increases pulmonary artery pressure, which can lead to pulmonary HTN if prolonged. Chronic pulmonary HTN results in thickening of small pulmonary arteries further exacerbating. Can eventually lead to a reversal of the shunt (Eisenmenger syndrome). Blood then bypasses lungs and the patient becomes cyanotic.

Answer 45

ASD accounts for about 10% of all congenital heart defects. More common in girls than boys (2:1 ratio). Often diagnosed in childhood but may be identified later in life if asymptomatic.

Answer 46

1. Ostium Secundum - Most common (70%), middle of atrial septum (region of fossa ovalis) associated w/ patent foramen ovale. 2. Ostium primum - Accounts for about 15-20% of cases. Located in the lower part of the atrial septum and often occur with abnormalities of the AV valves. 3. Sinus venosus defects - Located near the entry point of the superior or inferior vena cava, these defects make up around 5-10% of cases. Further subdivided into superior and inferior types.

Answer 47

Signs: Ejection systolic murmur - loudest at ULSB Fixed split 2nd heart sound Symptoms: Normally asymptomatic - found incidentally on antenatal scan/NIPE Larger ASDs/Decompensated patients - SOB, poor feeding, recurrent chest infections, Can show signs in adults with dyspnoea, heart failure, stroke. (Around 50)

Answer 48

Echocardiogram - diagnostic (TTE or TOE) CXR - enlarged RS/pulmonary arteries ECG - RBBB, right axis deviation, AF Cardiac MRI/CT - further detail Same for VSDs

Answer 49

Depends on severity: - Small ASDs usually close spontaneously - Percutaneous device closure or surgical closure - Monitoring/managing arrhythmias and PH

Answer 50

Most common congenital cardiac abnormality Often diagnosed in infancy (increased severity) VSD may occur with other congenital abnormalities (Down's, Patau, Edwards, Di george) Environmental - exposure to teratogens, maternal DM/infection, advanced maternal age

Answer 51

Signs: Pansystolic murmur - LLSB, louder in smaller defects Symptoms: In moderate/large VSDs Failure to thrive Faltering growth Recurrent chest infections, dyspnoea (pulmonary overcirculation) Cyanosis (Eisenmenger's)

Answer 52

Conservative for small defects Medical management: for heart failure symptoms ACEi, diuretics, digoxin Surgical: Transvenous catheter closure, open closure Prophylactic ABx to prevent endocarditis

Answer 53

Ventricular Septal Defect Pulmonary Stenosis Right ventricular hypertrophy Overriding aorta

Answer 54

VSD causes left to right shunt. Pulmonary stenosis means there is increased resistance to right ventricle ejection. This resistance increased right side pressure and workload causing right ventricular hypertrophy and also means blood shunts right to left. Overriding aorta is positioned over the VSD causing poorly oxygenated blood to go up into the aorta. This causes deoxygenated blood to enter the systemic circulation. The degree depends on the severity of pulmonary stenosis.

Answer 55

Cyanosis - usually soon after birth, variable depending on PS Tachypnoea and dyspnoea Failure to thrive/poor feeding Loud, harsh ejection systolic murmur Tet spells - episodic, increasing cyanosis. Triggered by exertion, crying.

Answer 56

Echocardiogram - diagnosis CXR - Boot shaped heart (RVH), decreased pulmonary vascular markings ECG - RVH (right axis deviation)

Answer 57

Managing 'Tet' spells: Knee to chest position Supplementary oxygen Beta blocker - propranolol IV fluids - improve systemic circulation Morphine IV prostaglandin infusion - maintain duct patency Surgical: Definitive management Complete repair - correction of PS + close VSD Palliative - Blalock-Taussig shunt (by time in severe cases)

Answer 58

A condition where the attachments of the aorta and the pulmonary trunk to the heart are swapped (“transposed”). Incompatible with life unless there is connection e.g VSD, ASD, PDA, PFO.

Answer 59

Accounts for 5-7% of congenital heart defects Detected during antenatal scans or shortly after birth - FHx of CHD - Maternal diabetes - Maternal age >35 - Maternal exposure - medication (lithium), alcohol + drugs - Nutritional deficiencies

Answer 60

Cyanosis at/shortly after birth Tachypnoea Poor feeding Cyanosis does not improve with O2 Loud single second heart sound

Answer 61

Fetal ultrasound Echo CXR - egg on string O2 sats - low

Answer 62

Prostaglandin E infusion - maintain patency of DA Emergency balloon atrial septostomy - allows blood mixing Arterial switch procedure - within first 1-2 weeks after birth

Answer 63

CHD characterised by a narrowing of the aorta. Typically occurs just before the ductus arteriosus. Varying severity and associated with genetic conditions, especially Turner's syndrome. Can be asymptomatic Systolic ejection murmur, absent/weak femoral pulses, differential upper/lower limb BP, resistant hypertension, heart failure, renal failure. Investigations: ECG (LVH older age), CXR (cardiomegaly), Echo Management: Prostaglandin E to maintain DA Surgical correction (emergency if severe), percutaneous stent implant

Answer 64

Narrowing of the the aortic valve, restricting blood flow from the LV to the aorta. May be due to partial fusion/fewer valve leaflets. Signs: Ejection systolic murmur (URSB), crescendo-decrescendo radiates to the carotids. Slow rising pulse, narrow pulse pressure Symptoms: Exercise intolerance, fatigue, SOB, dizziness, heart failure (within first months if severe) Investigations: Echo (gold standard), ECG + CXR may show LVH. Management: Percutaneous balloon aortic valvuloplasty, valve replacement, surgical aortic valvotomy

Answer 65

Partial fusion of PV leaflets, associated with genetic conditions such as william and noonan syndrome. Clinical features: Mostly asymptomatic Ejection systolic murmur at ULSE, carotid thrill, RV heave due to RVH, raised JVP with a waves, cyanosis (severe cases) Investigations: Echo, ECG (RVH), CXR (post stenotic dilation of PA) Management: Watch and wait (mild) Balloon valvuloplasty via venous catheter Open surgical repair

Answer 66

Most common arrhythmia in children Often caused by a reentrant circuit, typically involving the AV node (AVNRT) or an accessory pathway (AVRT). Clinical Features: Sudden onset of palpitations, tachycardia (250–300 bpm), dizziness, chest pain, irritability (in infants). Well tolerated by older children, heart failure may occur in the young infant. ECG shows narrow complex tachycardia; absence of P waves or abnormal P waves. Treatment: Vagal maneuvers (carotid massage, ice to face) successful in 80%. Emergency IV adenosine Long term: BB (sotalol), digoxin, flecainide, catheter ablation for recurrent SVT

Answer 67

Type of AV reentrant tachycardia, a type of SVT. This is caused by an accessory pathway called the Bundle of Kent which bypasses the AV node. It is associated with ebstein's anomaly. ECG features: Short PR interval, Delta waves, wide QRS Important: Concern when someone with WPW develops AF as this can rapidly lead to VF (life-threatening). Do not give AV node blocking agents (digoxin, BB, CCB) as this increases risk of VF Treatment: Procainamide, definitive is catheter ablation of BofK.

Answer 68

Rare. Complete or partial block in AV node conduction. Resulting in the atria and ventricles contracting independently of one another. Leading to reduced cardiac output and haemodynamic instability. Causes: Most commonly associated with maternal autoimmune disorders (e.g lupus) due to fetal exposure to anti-Ro, anti-La antibodies. Clinical features: Fetal hydrops Bradycardia (intrauterine bradycardia), circulatory shock, heart failure mainly neonates Older children - Presyncope/syncope ECG: dissociation between p waves and QRS complex Treatment: Observation (if mild), endocardial pacemaker (symptomatic/heart failure)

Answer 69

Congenital or acquired condition that causes prolonged repolarisation after a contraction, leading to a risk of polymorphic VT (TDP). Causes: Congenital - autosomal dominant (Romano-ward), recessive (Jervell and Lange-Nielsen syndrome) Acquired - Medications, electrolyte disturbance Clinical features: Palpitations, syncope (often triggered by exercise or emotional stress), seizures, or sudden death (TDP). Diagnosis: Prolonged QTc (450> in males, 460> in females) Management: Avoid QT prolonging drugs (Antipsychotics, macrolides, antidepressants - citalopram) BB (propranolol) Implantable cardioverter-defibrillator in high risk patients

Answer 70

ECG appearance: Irregular QRS complexes, twisting points. Can be self limiting or develop into VF (death if untreated) Immediate management: IV magnesium sulfate, defibrillator incase VF develops.

Answer 71

An autoimmune complication of a group A beta haemolytic streptococcal infection. Affects multiple systems, including the joints, heart, brain, and skin. Effects on the heart can lead to permanent problems and are an important cause of heart disease in children worldwide.

Answer 72

2-4 weeks after a group A beta-haemolytic streptococcal infection (typically strep throat) auto-antibodies are generated that not only target the streptococcus but that also cross-react with the endocardium leading to valvular disease. Most commonly mitral stenosis

Answer 73

Non-specific. Use Jones criteria: Recent streptococcal infection: raised or rising Anti-streptococcal antibodies (ASOs) positive throat swab positive rapid group A streptococcal antigen test Plus: 2 major criteria or 1 major with 2 minor criteria Major: J - joint arthritis (flitting, migratory) O - organ inflammation (carditis) N - nodules (hard, small, on extensor surfaces) E - erythema marginatum rash (pink border, pale centre) S - sydenham chorea (chorea, emotional, weakness) late feature Minor: F - fever E - ECG changes (prolonged PR, without carditis) A - Arthralgia (without arthritis) R - Raised ESR and CRP

Answer 74

Group A B-haemolytic strep eradication - Oral phenoxymethyl penicillin or IM benzathine penicillin NSAIDs - Ibuprofen, high dose aspirin (risk of Reye's syndrome), Naproxen Corticosteroids - if inflammation persists or severe carditis (stop NSAID) Manage heart failure: Diuretics, ACE inhibitors, valve surgery if severe Secondary prophylaxis: daily oral penicillin or monthly IM penicillin Chorea and rash self limiting but consider anticonvulsant (SV, carbamazepine) and antihistamines for pruritus.

Answer 75

Recurrent bouts of ARF with carditis causing scarring and fibrosis of heart valves mainly mitral valve (stenosis), significant number develop this and require valve replacement.

Answer 76

Very common infection, especially in young children <4. More than 80% of children have an episode <2. Peak between 6-18 months. Bacterial (mainly) - Strep pneumoniae, haemophilus influenza Viral - RSV, rhinovirus, adenovirus Bacterial infection of the middle ear is commonly preceded by an URTI.

Answer 77

Symptoms: Acute onset Otalgia (pain in/around ear) Fever Hearing loss Symptoms of URTI (sore throat, coryzal, cough) Irritability Poor feeding Signs: Otoscopy - Bulging, red tympanic membrane Loss of light reflex Purulent (tympanic membrane perforation) Preceding URTI in some

Answer 78

Most cases are self limiting that don't require Abx. Resolve within 3 days - 1 week. Give analgesia Admission - <3 months with temp >38, 3-6 months with temp >39. Suspect complications Prescribe Abx: 5-7 days amoxicillin or erythromycin Immunocompromised/significant comorbidities. <2 years with bilateral OM Perforation/discharge Systemically unwell Delayed prescription: Use if symptoms do not improve after 3 days or worsen at any time. Safety net, education

Answer 79

- Perforated ear drum (Chronic suppurative OM >6 weeks) - Temporary hearing loss - OM with effusion (glue ear) - Recurrent OM Rare, serious: - Mastoiditis - Meningitis - Brain abscess - Facial nerve paralysis

Answer 80

Otitis media with effusion. Accumulation of fluid in the middle ear with signs of acute infusion. Common in children aged 2-5. More common in children with Downs and cleft palate. Eustachian tube dysfunction leads to negative pressure in the middle ear which causes fluid accumulation which can become thick and viscous. Risk factors: Younger age (2-5), daycare attendance, parental smoking, allergies, FHx, previous AOM. Clinical features: Hearing loss, ear discomfort/fullness, speech delay, behavioural issues, balance problems Dull, retracted tympanic membrane (+/-) air bubbles/fluid level Management: Conservative - most cases resolve >3 months Grommets Adenoidectomy Hearing aid

Answer 81

Tiny tubes surgically implanted into the tympanic membrane. They help to ventilate the middle ear and prevent fluid buildup. Indicated in persistent glue ear, downs/cleft palate patients. Relatively safe and most fall out within a year.

Answer 82

Common in babies due to immaturity of the lower oesophageal sphincter. Commonest cause of vomiting in infancy. Normal to some extent but can cause increased distress and become problematic.

Answer 83

Chronic cough Hoarse cry Distress, crying or unsettled after feeding Reluctance to feed Pneumonia Poor weight gain In children over 1 similar to adults; Retrosternal/epigastric pain, bloating, nocturnal cough

Answer 84

Conservative: Smaller, frequent, thicker feeds Upright during and 30 mins after feed Medication: Trial Antacids/Alginate therapy (gaviscon) not with thickened feeds. PPIs if no response Very rarely surgical fundoplication may be required if severe GORD

Answer 85

Rare condition involving episodes of abnormal movements associated with GORD in infants. Torticollis - forceful contraction causing twisted neck Dystonia - Arching of back Tends to improve with GORD. Rule out infantile spasms and epilepsy.

Answer 86

Hypertrophy of the pyloric muscle, which controls gastric emptying from the stomach into the small intestine. Prevents food from entering the duodenum. Presenting usually between weeks 2-8 of life.

Answer 87

1. Male sex - 4x times more common 2. FHx of pyloric stenosis 3. Maternal and early exposure to macrolides 4. Caucasian 5. Bottle feeding 6. Prematurity

Answer 88

Abdominal USS - pyloric muscle thickness (>3mm), pyloric canal length (>15mm) Bloods/blood gas: Hypochloremic, hypokalemic and metabolic alkalosis

Answer 89

Projectile, postprandial (30 mins), nonbilious vomiting Failure to thrive Palpable 'olive shaped' mass in upper RQ/mid epigastric region Visible peristalsis (left to right) Dehydration - pale, dry mucous membranes, reduced urine output

Answer 90

Initial: IV fluid resuscitation + electrolyte correction Definitive: Pyloromyotomy (laparoscopic or Ramsteds) Excellent prognosis after surgery

Answer 91

Acute inflammation of the GI tract (predominantly the stomach and small intestine). Very common in children and is a leading cause of childhood morbidity globally. Viral causes are most common in children.

Answer 92

Viral: Most common in children - Rotavirus (most common before rotavirus vaccine) - Norovirus (now most common cause) - Adenovirus - Astrovirus Bacterial: - E. coli - Salmonella spp - Shigella spp - Campylobacter jejuni Parasitic: - Giardia - Cryptosporidium - Entamoeba histolytica

Answer 93

Specific features dependent on organism: Diarrhoea (non-bloody in viral) Vomiting (Often precedes diarrhoea in viral) Abdominal pain Low grade fever (in viral, >39 more likely bacterial) Signs of dehydration - sunken eyes, dry mucous membranes

Answer 94

Home: Most episodes resolve in 7 days Oral hydration/rehydration solutions (dioralyte) Hospital: IV fluids if unable to tolerate or severe dehydration Antipyretics If bacterial: Give Abx to those who are systemically unwell, immunocompromised.

Answer 95

Mainly clinical. Investigations rarely needed in viral gastroenteritis. - Bloods - FBC, U&E, cultures - Stool cultures & microscopy (if bacterial cause suspected)

Answer 96

Very common, most cases (90-95%) are functional/idiopathic, 5% are due to an underlying cause. Functional: Low fibre, low water intake, poor colonic motility GI: Hirschsprung's, intestinal obstruction, anal disease (infection, stenosis, ectopic). Non-GI: hypothyroidism, hypercalcaemia, LD, spinal disease, sexual abuse, drugs (opioids), CF

Answer 97

- Less than 3 stools a week - Hard, pellet like stools (rabbit droppings) - Straining and pain on defecation - Abdominal pain - Faecal impaction causing overflow soiling (encopresis) - Palpable faecal mass

Answer 98

1. Not passing meconium >48 hours 2. Ribbon stool (anal stenosis) 3. Failure to thrive 4. Neurological signs, particularly in lower limbs 5. Severe abdominal distension 6. Abnormal anal examination (sexual abuse, IBD, stenosis) 7. Abnormal lower back/buttock exam (spina bifida) 8. Vomiting (especially bilious)

Answer 99

Desentisation of the rectum and megarectum - becomes overdistended and worsens constipation Anal fissures Overflow and soiling Psychosocial comorbidity

Answer 100

Treat any underlying cause, recommend good hydration Disimpaction regimen - Polyethylene glycol 3350 + electrolytes (Movicol) or lactulose if not tolerated - escalating dose over 1-2 weeks or until disimpaction. Stimulant laxative if unresponsive (Senna or Sodium picosulfate (Dulcolax) Maintenance therapy - Low dose polyethylene glycol 3350 + electrolytes (movicol) (+/-) stimulant laxative. For 3-6 months. Very severe - Enema or manual evacuation under general anesthetic (by specialist)

Answer 101

Many can be cured. Adherence to treatment is very important, address concerns about long term laxative use. Persistent constipation continues in many children especially those with comorbidity (especially neurodevelopmental disorders). Chronic constipation significantly impacts quality of life.

Answer 102

A congenital condition characterised by complete or partial absence of ganglion cells of the myenteric plexus.

Answer 103

Caused by failure of ganglion cells to migrate to the hindgut. This leads to an absence of coordinated peristalsis and functional intestinal obstruction. Most cases occur in the sigmoid colon and rectum, and presents in the first year of life with chronic constipation.

Answer 104

- Down's syndrome (Trisomy 21) - Male sex - RET mutations (chromosome 10 and 21) - FHx, neurofibromatosis, multiple endocrine neoplasia type 2, Waardenburg syndrome

Answer 105

Neonatal period: Failure to pass meconium within 24 hours Abdominal distension Bilious stained vomiting Infants/children: Chronic constipation Failure to thrive Explosive stools after rectal exam Abdominal distension/palpable stools

Answer 106

Is a serious, life threatening complication of Hirschsprung's, which presents in the first weeks of life. Presents with fever, abdo distension, bloody diarrhoea and features of sepsis. Requires urgent decompression, antibiotics and IV fluids.

Answer 107

Abdominal X-ray: shows dilated colon Rectal biopsy: Gold standard, shows an absence of ganglion cells in submucosal and myenteric plexus

Answer 108

Initial: Bowel decompression with rectal washouts Definitive: Surgical removal of aganglionic bowel, usually done by a pull-through procedure. IV fluids, antibiotics in children presenting or developing HAEC.

Answer 109

Describes the invagination (telescoping) of one part of bowel into an adjacent segment leading to bowel obstruction.

Answer 110

1. Usually affects children aged 6-18 months 2. More common in boys (3:2) 3. Most common cause on intestinal obstruction in neonates 4. Commonly involves the ileum entering the caecum through the ileocaecal valve

Answer 111

The invagination of the proximal bowel into a distal part leads to narrowing of the lumen causing obstruction. The intussuscepted bowel becomes compressed and engorged, it may also pull in the mesentery and cut off blood supply, leading to ischaemia, necrosis and perforation if untreated.

Answer 112

These all increase the risk of a lead point which predisposes patients to intussusception: - Viral illness (mainly gastroenteritis) - enlargement of peyer's patches - Intestinal polyps - Meckel's diverticulum - HSP - CF (thick stools)

Answer 113

Symptoms: Severe, colicky abdominal pain Pale, lethargic, unwell child (in between waves of pain) Vomiting - may or may not be bilious Features of intestinal obstruction (absolute constipation, vomiting, abdo distension) Signs: Redcurrant jelly stools (blood-stained and mucus) Sausage shaped palpable mass in RUQ Abdominal distension Hypovolemic shock

Answer 114

Primary choice is abdominal USS: Shows characteristic 'Target' or 'Doughnut' sign

Answer 115

No signs of perforation, peritonitis, shock etc: - Rectal air insufflation (air enema) or contrast enema Signs of perforation, peritonitis, shock or failure of enema: - Surgical reduction or removal of necrotic bowel Supportive: Fluid resuscitation Analgesia Broad spectrum antibiotics

Answer 116

A congenital abnormality of the GI tract where the vitelline duct (supports the growth of the midgut) fails to fully regress. More common in males

Answer 117

- Occurs in 2% of the population - 2 feet from the ileocaecal valve - 2 inches long

Answer 118

It often contains heterotopic tissue most commonly gastric mucosa, which can secrete acid. Acid secretion can lead to ulceration of adjacent small bowel. Leading to bleeding, perforation or inflammation. It can also act as a lead point for intussusception.

Answer 119

Mostly asymptomatic - Lower abdominal pain (mimicking appendicitis) - Painless rectal bleeding - Intestinal obstruction (intussusception or volvulus) - Hypotension (due to bleed) - Signs of peritonitis (in perforation)

Answer 120

If hemodynamically stable: - Meckel's scan - 99m technetium pertechnetate (has affinity for gastric mucosa) - CT abdo/pelvis

Answer 121

Asymptomatic: Observation Symptomatic or causing complications: - Surgical resection or laparoscopic - Blood transfusion if bleeding

Answer 122

1. Most common cause of abdominal surgery in children 2. Can occur at any age, very uncommon in under 3s. Peak incidence 10-20 years 3. Perforation more likely in under 5s

Answer 123

Obstruction of the appendiceal lumen by a faecolith, lymphoid hyperplasia - increased pressure - bacterial overgrowth invading the appendix wall - inflammation - may proceed to gangrene + rupture

Answer 124

Based on clinical presentation and inflammatory markers: - FBC - Leukocytosis with neutrophilia - CRP - raised - Beta hCG and USS in girls of childbearing age - to rule out ovarian pathology - USS abdo (thickened, non-compressible) - CT abdo/pelvis - if USS is inconclusive, less appropriate due to radiation dose

Answer 125

Symptoms: Initial central colicky abdominal pain that progresses to the RIF Nausea + vomiting Anorexia Low-grade fever Signs: RLQ guarding and rebound tenderness Rovsing's sign - LLQ palpation causes tenderness in RLQ Pain on movement - patient may lie flat with legs flexed Obturator sign - pain on internal rotation of right hip Mcburnie's - 2/3 umbilicus - illiac spine

Answer 126

Definitive treatment: Laparoscopic appendectomy (fewer risks) or open surgery + copious lavage (if complicated or perforation) Prophylactic antibiotics in non-perforated. IV antibiotics and fluids, analgesia if perforation.

Answer 127

Ectopic pregnancy Ovarian cysts (rupture/torsion) Volvulus/intussusception (Meckel's diverticulum) Mesenteric adenitis - usually younger children (preceding viral illness)

Answer 128

Inflammation of lymph nodes in the mesentery. Often mimics appendicitis but is generally a self limiting illness. It is often follows a recent viral infection (gastroenteritis or upper resp). Aetiology: Virus (Coxsackie, adenovirus, EBV) Bacterial (Yersinia, group A strep, campylobacter) Symptoms: Abdo pain may be diffuse or localised to RLQ. Very similar to appendicitis. Normal WBC count and CRP unlike appendicitis, USS and CT normal Treatment: Usually self limiting, monitoring is important, hydration and analgesia.

Answer 129

Congenital anomaly in which the midgut undergoes abnormal rotation and fixation during embryogenesis. This makes it susceptible to volvulus, a life threatening emergency characterised by bowel twisting and duodenal compression.

Answer 130

Malrotation may be asymptomatic and found incidentally. Usually presents in first month (75% cases) - first year (90% cases) of life Volvulus: Surgical emergency Sudden onset bilious vomiting Severe abdominal pain Abdo distension Shock due to bowel ischaemia

Answer 131

Upper GI contrast study - gold standard (corkscrew appearance) Abdo X-ray - signs of obstruction, paucity of gas Abdo USS: May show whirlpool sign (twisted mesenteric vessels)

Answer 132

Urgent surgical intervention: Open laparotomy (Ladd's procedure) - involves detorsion of bowel anticlockwise, placing/fixing bowel in a correct position Resection of necrotic bowel if necessary (+/-) stoma Supportive: Urgent IV fluid resuscitation and NG tube

Answer 133

Untreated - volvulus can cause perforation, bowel ischaemia, peritonitis and sepsis (life threatening). Surgery may also cause short bowel syndrome if significant resection (chronic malnutrition)

Answer 134

T-cell mediated inflammatory response to gluten proteins (prolamins like gliadin), where autoantibodies are created. These target the epithelial cells, especially in the small bowel, which lead to inflammation. Affects the small bowel, mainly jejunum. Causes atrophy of the villi and crypt hyperplasia, leading to the malabsorption.

Answer 135

1. anti-tissue transglutaminase (anti-TTG) 2. anti-endomysial (anti-EMA)

Answer 136

- Strong genetic association - HLA DQ2 (90%) and HLA DQ8 - Coexisting autoimmune conditions - T1DM, autoimmune hepatitis, thyroid - Coexisting genetic disorders - Down's, Turner's

Answer 137

- Affects 1% of population - Bimodal peak - 1-5 years and 50-60 years - Women slightly more affected

Answer 138

GI: Diarrhoea (chronic/intermittent), bloating, abdominal pain, bloating, weight loss, failure to thrive, steatorrhoea (severe) Non-GI: Unexplained iron deficiency anaemia Fatigue Dermatitis herpetiformis (itchy, blistering skin rash) Aphthous ulcers Wasting of the buttocks

Answer 139

Rare: - Peripheral neuropathy - Cerebellar ataxia - Epilepsy

Answer 140

Should be carried out whilst the patient is consuming gluten. Serology: IgA level (may be deficient) Anti TTG (raised) Anti-endomysial (raised) Anti TTG IgG (if IgA deficient) Endoscopy with duodenal biopsy: Gold standard - villous atrophy, crypt hyperplasia, raised intraepithelial lymphocytes Genetic testing: HLA DQ2/DQ8 (supports diagnosis)

Answer 141

- Vitamin deficiency - Anaemia - Osteoporosis - Hyposplenism - Enteropathy-associated T cell lymphoma (EATL), a rare type of non-Hodgkin lymphoma

Answer 142

Lifelong gluten free diet Vitamin and mineral supplements Monitor - growth, development, complications

Answer 143

NESTS - crohns **N**o blood or mucus **E**ntire GI tract affected '**S**kip' lesions on endoscopy **T**erminal ileum most affected + Transmural (full thickness) inflammation **S**moking is a risk factor CLOSEUP - uc **C**ontinuous inflammation **L**imited to colon and rectum **O**nly superficial mucosa affected **S**moking is protective **E**xcrete blood and mucus **U**se aminosalicylates **P**rimary sclerosing cholangitis

Answer 144

Typically presents in late adolescence: Classic: Abdominal pain Diarrhoea Weight loss Growth failure/delayed puberty Extraintestinal manifestations - Perianal disease is common

Answer 145

- Erythema nodosum (more common in crohn's) - Pyoderma gangrenosum (more common in UC) - Arthropathy (both) - Uveitis/episcleritis (both) - Finger clubbing (more common in crohn's) - Primary sclerosing cholangitis (mainly UC)

Answer 146

Blood tests: FBC (raised wcc, ESR, CRP, thrombocytosis, anaemia - iron, b12, folate) LFTs Faecal calprotectin - intestinal inflammation, will be raised Endoscopy - (OGD) Cobblestone, skip lesions, transmural inflammation. Non-caseating granulomas MRI/CT abdomen

Answer 147

Can be present in upto 1/3 patients: Skin tags, fissures, fistulae, abscesses and anal canal stenosis

Answer 148

Inducing remission: 1st line - Oral prednisolone or IV hydrocortisone If not effective add immunomodulators (Methotrexate, azathioprine, mercaptopurine, infliximab, adalimumab) Stop smoking, enteral nutrition, Abx for perianal disease, nutritional supplements

Answer 149

1st line: Thiopurines (azathioprine, mercaptopurine) 2nd line: Methotrexate: Alternative if thiopurines are not tolerated. 3rd line: Biologic agents (anti-TNF therapy like infliximab or adalimumab): For moderate to severe disease or when unresponsive to other treatments. Surgery: To remove worse affected areas, 80% of patients have at least 1. Ileocaecal procedure common. Can treat complications like strictures and fistulas

Answer 150

Malabsorption Intestinal strictures, abscesses, fistulas Increased risk of colon cancer Toxic megacolon/perforation Amyloidosis Osteoporosis

Answer 151

Remissions and exacerbations GI: Episodic or chronic bloody diarrhoea with mucus Colicky abdo pain (especially LLQ) Tenesmus/urgency Systemic: in attacks Anorexia Malaise Weight loss Fever

Answer 152

Bloods - same as crohn's, LFTs (PSC) Faecal calprotectin - raised Stool cultures - rule out c.diff, campylobacter Colonoscopy with biopsy or sigmoidoscopy (in severe disease due to perforation risk) - Continuous mucosal inflammation, loss of goblet cells, crypt abscess, ulceration. pseudopolyps.

Answer 153

Inducing remission: Mild-moderate - Aminosalicylates (5-ASA) - oral or rectal (proctitis) such as mesalazine, sulfasalazine. Consider oral prednisolone Severe disease: 1st line: Oral pred or IV hydrocortisone 2nd line: IV ciclosporin or Infliximab Maintaining remission: 5-ASA (topical in proctitis or oral) After severe relapse or >2 flares in a year - Azathioprine or mercaptopurine Surgery: Colectomy if very severe (whole or ileoanal anastomosis - j pouch)

Answer 154

Suboptimal weight gain in infants or young children, defined as a sustained drop of 2 centiles or more. - 1 or more centiles: if bw was below the 9th centile - 2 or more centiles: if bw was between 9th - 91st centiles - 3 or more centiles: if bw was above the 91st centile - When current weight is below 2nd centile at any time

Answer 155

1. Inadequate nutritional intake - Maternal malabsorption, family problems, neglect, poverty 2. Difficulty feeding - poor suck (e.g CP), cleft lip/palate, pyloric stenosis, genetic conditions 3. Malabsorption - CF, coeliacs, IBD, cows milk intolerance 4. Increased energy requirements - Hyperthyroidism, chronic disease (CHD, CF), malignancy, chronic infection 5. Inability to process nutrients - Inborn errors of metabolism, T1DM

Answer 156

Full history and examination: Pregnancy, birth, developmental and social history Feeding or eating history Observe feeding Mums physical and mental health Parent-child interactions Height, weight and BMI (if older than 2 years) and plotting these on a growth chart Calculate the mid-parental height centile

Answer 157

Urine dipstick - for infection Coeliac screen - anti TTG, anti EMA FBC, iron studies, TFTs, LFTs, U&Es

Answer 158

Treat underlying conditions MDT support for families - lactation consultants, formula supplementation, regular monitoring Mealtime and nutritional support - structured mealtimes, dietician review, energy dense foods Specialist referral

Answer 159

Occur from birth to 1 year of age Affect up to 35% of children with normal development and 80% with developmental delay More common in preterm birth Most are multifactorial in origin

Answer 160

1. Neurological, neuromuscular, and neurodevelopmental disorders: Cerebral palsy, spinal muscular atrophy, muscular dystrophies, developmental delay 2. Anatomical abnormalities: Cleft lip/palate, ankyloglossia (tongue-tie) 3. GI: GORD, coeliacs, colic, cow's milk protein allergy, lactose intolerance 4. Genetic conditions (Down's, pierre robin sequence) 5. Psychosocial conditions: feeding aversion, parental anxiety, neglect or abuse

Answer 161

1. >30 minutes taken for a feed 2. Stressful mealtimes - irritability, crying, lethargy 3. Food refusal 4. Symptoms related to causes (regurgitation, tachypnoea, chest infections, cyanosis) 5. Faltering growth

Answer 162

Address the underlying cause: Surgery for cleft palate, manage GORD etc Nutritional support Psychosocial support: Education on feeding, family support

Answer 163

A severe form of malnutrition, of all macronutrients, caused by a significant deficiency in caloric intake. Characterised by extreme wasting and loss of body fat and muscle tissue. Most commonly seen in children, especially in settings with food scarcity, poor socioeconomic conditions, or in areas where famine or inadequate food supply is common.

Answer 164

Severe weight loss: The child appears extremely thin with prominent bones and very little subcutaneous fat. Muscle wasting Hunger: Unlike kwashiorkor, children with marasmus are often very hungry and will eagerly try to eat if food is available. Growth failure Weakness and fatigue Thin, dry skin and hair

Answer 165

Severe malnutrition primarily caused by a deficiency in protein intake, despite adequate or near-adequate calorie intake from carbohydrates. It most commonly affects young children, particularly in developing regions where diets are primarily carbohydrate-based (e.g., maize or cassava) with insufficient protein.

Answer 166

Edema (fluid retention): A hallmark sign of kwashiorkor is generalized swelling, especially in the face, legs, and feet, caused by low albumin levels. Moon face Distended abdomen: Caused by weakened abdominal muscles and fluid retention. Dry, brittle hair: Hair may become discolored (lightening or reddish) and fall out easily. Skin lesions: Dark, peeling, or cracked skin, often referred to as "flaky-paint" dermatitis. Irritability and apathy Growth failure: may not always appear underweight due to edema.

Answer 167

An immune mediated allergic response to the protein in cow's milk presenting in children under 3 years, usually in the first 3 months of life. Not an allergy to lactose.

Answer 168

Affects 2-3% of infants in the 1st year of life (usually 3 months) More common in formula fed infants Most children outgrow CMPA by age 3-5 More common in children with atopy

Answer 169

1. IgE mediated (type 1 hypersensitivity) - immediate response with 2 hours 2. Non IgE mediated (type 4 hypersensitivity) - delayed response, over several days. Also known as CMP intolerance

Answer 170

GI: Bloating/wind Abdominal pain Diarrhoea Regurg/vomiting Allergic symptoms: Only in CMPA (IgE) Urticaria (hives) and eczema Angioedema Wheezing or respiratory distress Watery eyes/sneezing/cough Anaphylaxis in severe cases May cause faltering growth

Answer 171

Clinical: Full history and exam Skin prick testing Total IgE and specific IgE to cow's milk protein

Answer 172

Formula fed: Hydrolysed formula for CMPA Breastfed: Mothers should avoid dairy Reintroduction: Every 6 months, based on milk ladder

Answer 173

CMPA: IgE mediated - Milk tolerant by age 5 CMPI: Non IgE mediated - Milk tolerant by age 3

Answer 174

Characterised by excessive, paroxysmal crying in an otherwise healthy child. Typically occurring for more than 3 hours a day, more than 3 days a week, for at least 3 weeks. Common and benign.

Answer 175

- Occurs in 10-40% of infants - Typically resolves by 4-5 months - Equal sex prevalence

Answer 176

Food allergy Exposure to cigarette smoke Parental anxiety/psychosocial issues Bottle fed infants

Answer 177

- Reassurance - Upright position and burping in feeds - If severe colic (may be CMPA) - consider trial of hydrolysed formula or maternal avoidance of dairy

Answer 178

Most common cause of persistent loose stools in preschool children (1-5 years). Varying consistency of stools (well formed or explosive/loose) Causes: Diet high in sugary drink (juices)/low in fat, post gastroenteritis CMPA (temporary), gut dysmotility Rule out other differentials (diagnosis of exclusion)

Answer 179

A congenital absence or narrowing of the bile ducts. It is a progressive, inflammatory condition involving either a segment or the entire biliary tree. Leads to cholestasis, liver damage and eventually failure.

Answer 180

- More common in females - Presents in first 2-8 weeks of life - More common in asian populations

Answer 181

- Persistent jaundice >2 weeks - Dark urine and pale stools - Failure to thrive: fat malabsorption Signs: - Jaundice - Hepatomegaly - Abnormal growth

Answer 182

- Serum total and conjugated bilirubin: total may be normal but conjugated is very high - LFTs: Raised, especially GGT. Not sensitive - USS liver: Dilated ducts - Sweat chloride test: CF may co-exist - Cholangiography - definitive test

Answer 183

- Kasai procedure (hepatoportoenterostomy) - attaching a section of the small intestine to where bile usually drains. - Liver transplant if procedure fails

Answer 184

- Affects 50-70% of newborns - 80% of preterm babies - Usually resolves after 1-2 weeks

Answer 185

Haemolytic disorders: - Rhesus/ABO incompatibility - G-6-P deficiency - Hereditary spherocytosis Congenital infection and sepsis: TORCH screen

Answer 186

Increased RBC turnover: - Physiological jaundice (most common) - Polycythaemia Enzyme deficiency: - G6PD - Crigler-Najjar Syndrome - Hypothyroidism Other: - Breast milk jaundice - Dehydration

Answer 187

- Biliary obstruction - atresia, choledochal cyst - Neonatal hepatitis - Infection - Breast milk jaundice - Metabolic: Galactosaemia, A-1 antitrypsin

Answer 188

Higher turnover and shorter lifespan of RBCs (increased bilirubin). Immature liver, reduced metabolism and excretion of bilirubin.

Answer 189

FBC and blood film - polycythaemia or anaemia Conjugated bilirubin: elevated levels indicate a hepatobiliary cause - biliary obstruction, intrahepatic cause Haemolysis: Blood type testing of mother and baby - ABO or rhesus incompatibility Direct Coombs Test (direct antiglobulin test) - haemolysis Thyroid function, particularly for hypothyroid Infection: Blood and urine cultures ESR/CRP Hep A/B/C antibodies Glucose-6-phosphate-dehydrogenase (G6PD) levels for G6PD deficiency

Answer 190

Use treatment threshold charts to determine if treatment is required: - Phototherapy - converts unconj. BR to water soluble pigment which is excreted in the urine - Exchange transfusion - Replace 2X infants blood volume with donor blood - Treat underlying cause: e.g surgery in Biliary atresia

Answer 191

Kernicterus: Encephalopathy due to high levels of unconj. bilirubin in the brain

Answer 192

Consider if prolonged jaundice: Signs: Liver inflammation, IUGR and hepatosplenomegaly at birth. Causes: Viral (Hep A/B/C, CMV, rubella) Ix: Inflammatory LFTs - High ALT, AST, ALP. Biopsy shows Multinucleated giant cells & Rosette formation. Supportive care, may resolve or liver transplant if liver failure.

Answer 193

Congenital dilatation of the bile ducts in children, which can affect the extrahepatic, intrahepatic, or both types of ducts. It typically presents with a triad of symptoms: abdominal pain, jaundice, and a palpable mass. Children may also have recurrent cholangitis or pancreatitis. Diagnosis is confirmed by ultrasound or MRCP, and the mainstay of treatment is surgical excision of the cyst to prevent complications such as biliary cirrhosis, cholangitis, or malignant transformation.

Answer 194

- More common in infants and young children - Affects girls (8%) more than boys (2%) (>1) Causes - E.coli (80%), Klebsiella, proteus, pseudomonas and others

Answer 195

Infants: Fever Poor feeding Irritability Lethargy Offensive urine Older children: More specific Abdominal pain (especially suprapubic) Fever (less common >1) Vomiting Dysuria Frequency/incontinence Offensive urine

Answer 196

Fever above 38 degrees Loin pain/tenderness

Answer 197

Urine sample - clean catch, adhesive bag, invasive (catheter/SPA) only if needed. MSU in older children 1. Urine dip - leukocytes and nitrites (highly suggestive of UTI) 2. Urine MCS - Confirm diagnosis (>10^5 per ml) Nitrites are more suggestive of infection than leukocytes.

Answer 198

1. <3 months - immediate hospitilisation + IV ABx 2. >3 months with upper UTI/pyelonephritis - Consider hospital referral. PO ABx for 7-10 days. (Cephalosporin or co-amoxiclav) 3. > 3 months with lower UTI - PO ABx for 3 days (usually trimethoprim, nitrofurantoin, cephalosporin or amoxicillin)

Answer 199

Recurrent UTIs Atypical UTIs - Severely ill/sepsis, poor urine flow, poor treatment response >48 hrs, non-e.coli organism, raised creatinine

Answer 200

USS: All children <6 months within 6 weeks, after 1st UTI Children with recurrent UTI within 6 weeks Children with atypical UTI during illness DMSA scan: 4-6 months after to assess damage MCUG: to diagnose VUR in children <6 months

Answer 201

Voiding dysfunction Vesicoureteric reflux Tract anomalies - Duplex kidney, Ectopic ureter, Ureterocele Immunodeficiency Constipation Poor toilet habits - holding urine, improper wiping

Answer 202

Backflow of urine into the upper urinary tract. Grade I-V. Cause: Familial (defect in vesicoureteral valves) and bladder issues (obstruction, neuropathic bladder) Ix: MCUG (micturating cystourethrogram) Mx: Avoid constipation, avoid full bladder, prophylactic ABx, surgical input Complications: Recurrent UTIs, pyelonephritis, renal scarring/CKD

Answer 203

Defined as involuntary urination in children aged 5 or over. Most children achieve this by age 3-4. - Primary: Child has never managed a consistently dry night. More common - Secondary: Child has been previously dry for at least 6 months, but begins bedwetting. More likely underlying cause

Answer 204

- Delayed maturation of bladder - Genetic link - strong familial history - Overactive bladder - Fluid intake before bedtime - Psychological distress

Answer 205

- UTIs - Constipation - T1DM - Neurological - spina bifida etc - Maltreatment/abuse

Answer 206

Daytime incontinence: More common in girls - Stress: describes leakage of urine during physical exertion, coughing or laughing. - Urge: an overactive bladder that gives little warning before emptying

Answer 207

- Full examination and history - Urinalysis - Rule out infection or diabetes - Urine osmolarity testing - Renal/bladder USS

Answer 208

- Education, lifestyle changes, behavioural changes: Fluid intake, toileting patterns, reward system - Assess/manage underlying medical condition - Enuresis alarms: at least 3 months - 1st line: Desmopressin (>7 years), secondary: Oxybutynin (Ach), Imipramine (tricyclic)

Answer 209

Most common: - Post infection (commonly streptococcal) - IgA nephropathy Others: - Vasculitis (HSP, SLE, Wegeners) - Membranoproliferative glomerulonephritis - Goodpasture syndrome (ABM antibodies)

Answer 210

1. Haematuria 2. Oliguria (<0.5-1ml/kg/h) 3. Proteinuria (>3g/d) - less than nephrotic Clinical features: Volume overload - Oedema (especially periorbital) - Hypertension - seizures

Answer 211

- Maintain fluid and electrolyte balance: Diuretics, restrict salt - Mx hypertension: Alpha blockers, CCB - Treat underlying infection: Abx - Rapidly decreasing renal function (Glomerulonephritis): Renal biopsy, immunosuppression, plasma exchange

Answer 212

1-3 weeks after B-haemolytic streptococcal infection, usually tonsillitis. Strep antigens, antibodies and complement proteins get stuck in glomeruli and cause inflammation Ix: Recent strep (+ve throat swab), raised ASO ab/anti-DNAse B, low complement C3 Tx: Supportive, general nephritis management

Answer 213

Related to HSP, caused by IgA deposits in the kidney causing inflammation. Renal biopsy: IgA deposits and glomerular mesangial proliferation Usually presents in teenagers/young adults, associated with URTI. Male and asians more affected Mx - Supportive renal management, immunosuppressants (steroids, cyclophosphamide)

Answer 214

Inflamed basement membrane becomes highly permeable to protein: Most common 2-5 yrs 1. Heavy proteinuria (>200mg/d) = frothy urine (+3) 2. Hypoalbuminemia (<25g/L) 3. Oedema - periorbital, legs, scrotal/vaginal

Answer 215

1. Deranged lipid profile - high cholesterol, triglycerides and LDLs 2. High BP 3. Hypercoagulability

Answer 216

Primary: Minimal change disease (most common 80%) - idiopathic Secondary: Intrinsic kidney disease - Focal segmental glomerulosclerosis Membranoproliferative glomerulonephritis Systemic illness - HSP Diabetes Infection (hepatitis, malaria, HIV)

Answer 217

Urine dip - protein ++ FBC, ESR U&Es, albumin (low) Hep B and C screen Malaria screen

Answer 218

Minimal change disease: - High dose prednisolone (PO for 4 weeks then wean for 4 weeks) - Low salt diet - Diuretics for oedema If severe: - ABx prophylaxis - Albumin infusions

Answer 219

Causes - Focal segmental glomerulosclerosis (most common), Membranoproliferative Management: Early referral to paediatrician Diuretic therapy, salt restriction ACE inhibitors NSAIDs, immunosuppressants (cyclophosphamide, tacrolimus)

Answer 220

- Hypovolemia - Thrombosis - Infections - loss of Igs in urine - Acute/chronic renal failure - Hypercholesterolemia/lipidemia

Answer 221

- 1/3 will resolve - 1/3 will have infrequent relapses - 1/3 will have frequent relapses (steroid dependant)

Answer 222

A congenital malformation where the urethral opening is on the underside of the penis, rather than the tip. Affects 1 in 200/300 live male births

Answer 223

Usually picked up on newborn screening exam: - Referral to paediatric urologist - Do not circumcise Mild: may require no treatment Surgery: After 3-4 months, before 2 years

Answer 224

- Ventral urethral meatus - Ventral curvature of the penis (severe form - chordee) - Hooded appearance of the foreskin

Answer 225

- Difficulty urinating - Cosmetic/psychological concerns - Sexual dysfunction (especially with severe chordee)

Answer 226

Inability to retract the foreskin. Can be physiological (usually retracts by 4) or pathological (due to balanitis/lichen sclerosus) Symptoms: Often asymptomatic, difficulty/ballooning urinating, dysuria, swelling/soreness Mx - Topical steroids or Circumcision if pathological/causing symptoms

Answer 227

Generally seen in young children, typically following a GI infection, and is characterised by a triad of: - AKI - Microangiopathic haemolytic anaemia - Thrombocytopenia Includes typical HUS (mostly children) and atypical (adults and children)

Answer 228

- Typical: Bacterial infections, especially E. coli 0157 and Shigella which produce the shiga toxin. (consumption of undercooked meat, contaminated water) - Atypical: Inherited or autoimmune complement dysregulation

Answer 229

Typical: Shiga toxin damages endothelial cells, particularly in the kidneys, leading to platelet activation and aggregation, hemolysis, and renal damage. Also activates complement system exacerbating inflammation. Atypical: Dysregulation of the alternative complement pathway, leading to excessive complement activation and endothelial damage.

Answer 230

Prodromal diarrhoea (first symptom) - less common in atypical. After around 1 week of diarrhoea - - Fever - Abdo pain - Lethargy - Oliguria, hypertension, haematuria (renal damage) - Confusion (uraemia) - Bruising

Answer 231

Bloods - anaemia, thrombocytopenia, schistocytes on blood film (fragmented) U&Es - AKI Stool culture - Causative organism, Shiga toxin PCR

Answer 232

Typical: Supportive - IV fluids, antihypertensives, blood transfusion (anaemia) or dialysis if required. Most patients will fully recover Atypical: Supportive Plasma exchange Eculizumab (C5 inhibitor monoclonal antibody)

Answer 233

- 15-20% of children - Usually onset <2 years - Clears in 50% by 12 and 75% by 16

Answer 234

Genetic - Filaggrin mutation, FHx atopies (asthma, allergic rhinitis) Environmental - irritants, allergens, stress/illness, cold weather

Answer 235

- Itchy, erythematous rash - Dry skin/flaking - Flexures, face and neck commonly affected - Variable flares - Chronic (lichenification and fissures)

Answer 236

Susceptible to infection: - S.aureus/strep: Weeping pustules, crusting, fever malaise (treat oral flucloxacillin) - HSV (eczema herpetium) Psychological stress Topical steroid dependance/withdrawal SE to immunosuppressants (methotrexate, cyclosporin)

Answer 237

- IgE levels + skin prick testing (if other atopic disease), EASI/DLQI scores for severity/impact - Emollients - Antihistamines - Topical corticosteroids (mild to potent) - Topical calcineurin inhibitors - Phototherapy - Immunosuppressants - Biological agents

Answer 238

Viral skin infection caused by HSV or VZV. May be associated with a coldsore in a patient with eczema (open skin).

Answer 239

Widespread, painful vesicular rash (monomorphic punched out erosions) May be pus filled blisters Pain, fever, lethargy/irritability Reduced oral intake and lymphadenopathy

Answer 240

Oral or IV aciclovir

Answer 241

- Asthma - Allergic rhinitis All IgE mediated type 1 hypersensitivity reaction

Answer 242

May be seasonal (hayfever), perennial (dustmite) or occupational: Sneezing Nasal itching/pruritus Nasal obstruction Rhinorrhea Swollen, red eyes (allergic conjunctivitis)

Answer 243

Allergen avoidance Antihistamines - - Non sedating: Cetirizine, loratadine, fexofenadine - Sedating: Chlorphenamine, promethazine Nasal corticosteroid spray (fluticasone, mometasone) Nasal antihistamines (azelastine, olopatadine) Nasal decongestants (not long term due to increasing need and withdrawal congestion) Immunotherapy - sublingual or subcutaneous

Answer 244

Medical emergency. Acute, severe type 1 mediated hypersensitivity reaction. Caused by IgE which stimulates mast cells to rapidly release histamines and pro-inflammatory markers (mast cell degranulation).

Answer 245

- Food (nuts, fish, eggs) - Drugs (NSAIDs, penicillin, contrast media) - Venom (wasp, bee stings)

Answer 246

Acute onset: - Airway: Swelling of throat/tongue - causing stridor/hoarse voice - Respiratory: SOB, wheeze - Cardiac: Tachycardia, hypotension/shock, angioedema (swelling of lips/eyes) - Gastro: Abdominal pain, diarrhoea, vomiting - Derm: Urticaria, pruritus,

Answer 247

ABCDE Call for help Remove trigger, sit patient upright, or flat with legs raised if circulatory failure, pregnant lie on left IM Adrenaline (anterolateral aspect of thigh) - <6 months: 100-150 mcg 1:1000 - <6 years: 150mcg 1:1000 - 6-12 years: 300 mcg 1:1000 - 12+ years: 500 mcg 1:1000 Establish airway, High flow oxygen, apply monitoring If no response: Repeat IM adrenaline IV fluid bolus

Answer 248

Persistent respiratory and/or cardiac problems despite 2 doses IM adrenaline. IV fluids and consider IV adrenaline infusion

Answer 249

After initial treatment: Antihistamine (chlorphenamine) and IV hydrocortisone Monitor for biphasic reaction Serum mast cell tryptase within 6 hours - confirms anaphylaxis Long term: Prescribe EpiPen, patient and family education, referral to allergy specialist

Answer 250

Skin reaction to an allergen which leads to histamine release leading to localised vasodilation and increased capillary permeability. This leads to a swelling in the dermis (urticaria) or deeper into the subcut/submucosal tissues (angioedema).

Answer 251

- Acute (<6 weeks, usually allergic cause) Chronic (>6 weeks): - Idiopathic chronic urticaria - Inducible chronic urticaria - Autoimmune urticaria

Answer 252

Patchy, erythematous, red/white lesions (wheals) with pruritus Angioedema: Swelling, usually involving the lips, eyelids, extremities, tongue

Answer 253

Avoid trigger Non-sedating antihistamines: Usually fexofenadine Short course corticosteroids In severe cases: leukotriene antagonist, omalizumab, ciclosporin

Answer 254

Risk of airway obstruction: - Adrenaline + airway protection - IV antihistamine - diphenhydramine - IV corticosteroids - methylprednisolone - Hereditary angioedema (no urticaria) - due to c1 esterase inhibitor deficiency - treat with replacement c1EI or fresh frozen plasma

Answer 255

Severe, life threatening type 4 hypersensitivity reaction primarily affecting the skin and mucous membranes. Most often triggered by drugs and rarely viral, bacterial infection. SJS affects <10% body SA and TEN affects >30% body SA.

Answer 256

Drugs: - Anticonvulsants (carbamazepine, phenytoin, lamotrigine) - Antibiotics - NSAIDs - Allopurinol Infections: - HSV - Mycoplasma pneumoniae - CMV

Answer 257

Presents within 1 to 8 weeks Prodromal symptoms: Fever, malaise, sore throat, cough, and other flu-like symptoms Skin lesions: Painful red or purplish macules that quickly evolve into blisters and areas of skin detachment - Positive Nikolsky's sign: Rubbing leads to detachment Mucosal involvement: Ulceration/erosions of the mouth, eyes, genitalia, pharynx, GI tract

Answer 258

Recent drug use Recent infection Certain HLA types (HLA-B*1502 with carbamazepine in Southeast Asian) Immunodeficiency (HIV, cancer) Smallpox vaccination

Answer 259

Discontinue offending drug Hospitilisation to burns unit or ICU, ophthalmology referral Supportive care: Fluid replacement, wound care, nutrition (NG tube), pain management, ABx IV immunoglobulins, immunosuppressants (ciclosporin, corticosteroids)

Answer 260

Acute: - Dehydration - Secondary infection - Respiratory failure - AKI - due to volume loss/electrolyte disturbance Chronic: Ocular complications Permanent skin damage Genital complications Psychological complications Prognosis: TEN (30% mortality) and SJS (10% mortality)

Answer 261

A systemic acute, self limiting, small-medium vessel vasculitis. Exact cause is unknown. Mainly affects children under 5 and is more common in asian boys (particularly japanese and korean)

Answer 262

Child appears very unwell High grade fever (>38.5) persistent for more than 5 days (resistant to anti pyretics PLUS: C - bilateral Conjunctivitis (non-exudative) R - Non-specific polymorphic Rash (usually maculopapular erythematous) E - Edema/Erythema of hands and feet which later peel A - Adenopathy (mainly cervical lymphnodes M - Mucosal involvement (Strawberry tongue, red/cracked lips)

Answer 263

Acute phase: Child is most unwell with fever, rash and lymphadenopathy. Lasts 1-2 weeks Subacute phase: Acute symptoms settle, desquamation and arthralgia occur. Risk of coronary artery aneurysms. Lasts 2-4 weeks Convalescent stage: remaining symptoms settle, blood tests return to normal and the coronary aneurysms may regress. Lasts 2 – 4 weeks.

Answer 264

FBC: anaemia, leukocytosis and thrombocytosis LFTs: hypoalbuminemia, elevated liver enzymes ESR: Raised Urinalysis: White cells without infection Echocardiogram: Key assessment of coronary pathology. Also follow up after 8 weeks recovery.

Answer 265

Scarlet fever Measles Drug Reactions Juvenile Rheumatoid Arthritis Toxic Shock Syndrome

Answer 266

IV immunoglobulins to reduce the risk of coronary artery aneurysms + High dose aspirin (risk of reye's syndrome) Follow up echocardiograms

Answer 267

The measles virus (morbillivirus), in the paramyxovirus family. Highly contagious virus spread via respiratory droplets. Increasing incidence in developed countries due to fears of MMR vaccine.

Answer 268

Prodromal phase (2-4 days): - Fever (often high) - Cough, coryza, conjunctivitis - Rash - Erythematous maculopapular rash (pink then red macules) - First face (behind ears), then chest and abdomen, then arms and legs - Oral 'Koplik spots' Red spot with white centre on buccal mucosa Usually develop 10-14 days post-exposure and last for 7-10 days.

Answer 269

Notifiable disease - Supportive care: Antipyretics, hydration, nutrition, vitamin A supplementation Monitor for complications

Answer 270

- Pneumonia: most common cause of death - bacterial superinfection - Otitis media (most common) - Encephalitis - Subacute sclerosing panencephalitis - can occur years after measles infection - Corneal ulceration/blindness

Answer 271

Most healthy children recover well - Vitamin A and immunodeficiency have a worse prognosis - Older children have worse prognosis

Answer 272

Varicella Zoster Virus

Answer 273

Rash: Widespread, erythematous, raised, vesicular, blistering lesions Start as red raised, then blisters, then crusted over Usually starts on the face/trunk then spreads outwards. Fever (low grade) initially, itch, general fatigue/malaise

Answer 274

- Bacterial superinfections of skin lesions - Pneumonia (fatal if immunocompromised) - Encephalitis - Shingles in later life

Answer 275

Self-limiting, supportive care - calamine lotion, antipyretics Immunocompromised or neonates: IV aciclovir Kept off school, stay away from pregnant women and immunocompromised

Answer 276

Is a reaction to bacterial (erythrogenic) toxins caused by group A haemolytic streptococcus (especially strep pyogenes). Usually preceding sore throat/tonsillitis, rarely skin infection.

Answer 277

- Most common in children aged 3-6 years - Spread via respiratory droplets

Answer 278

Prodrome: Fever, chills, headache, sore throat, N&V Fine papular rash with tiny red bumps - involving the trunk and spreads to the limbs and neck. Blanching Facial flushing with pallor around the mouth Strawberry red tongue

Answer 279

Notifiable disease - 10 days phenoxymethylpenicillin or macrolide in penicillin allergy (erythromycin) Supportive: Antipyretics, hydration, rest Can return to school 24 hours after starting ABx

Answer 280

Usually mild but may present with: - Otitis media - Rheumatic fever - around 20 days after - Glomerulonephritis - PANDAS Suppurative: - Sepsis, meningitis, tonsillopharyngeal abscess

Answer 281

Viral infection caused by rubella virus. Very rare in the UK, generally a mild illness in children but significant complications especially in pregnant women.

Answer 282

- Outbreaks more common in winter and spring - Incubation period of 14-21 days - Transmitted via respiratory droplets - Infectious 7 days before symptoms and 4 days after rash onset

Answer 283

Prodrome (1-5 days before rash) - Mild fever, conjunctivitis, rhinorrhoea, lymphadenopathy Rash - Pink maculopapular rash, less confluent than in measles. Lasts 3 days before fading Forchheimer spots - pinpoint red petechiae on soft palate Joint pain/arthritis

Answer 284

Notifiable disease Supportive care - disease is usually self limiting Avoid pregnant women

Answer 285

- Thrombocytopenia - Encephalitis - Myocarditis Pregnant women: Congenital Rubella Syndrome: particularly infection in the 1st trimester - Fetal death - Retardation - Deafness - Congenital heart defects

Answer 286

Parvovirus 19, also called slapped cheek syndrome or erythema infectiosum.

Answer 287

- Initial mild fever, coryza, myalgia, headache - After 2-5 days: Slapped cheek appearance 1-4 days after this a reticular mildly erythematous rash develops on trunk and limbs - Symptoms wax and wane over 1- 2 weeks, usually self limiting - Not infectious once rash presents

Answer 288

- Aplastic anemia - Fetal complications if infected in pregnancy (fetal anemia-hydrops fetalis-fetal death) - Encephalitis/meningitis

Answer 289

- Immunocompromised - Pregnant women (intrauterine blood transfusions) - Sickle cell anemia (can trigger aplastic crisis) - Hereditary spherocytosis - Thalassemia - Hemolytic anemia Monitor these patients with FBC and reticulocyte count (shows aplastic anemia). Treat with blood transfusion, IV Igs.

Answer 290

Caused human herpes virus 6 and less commonly HHV-7.

Answer 291

Typically affects children 6 months - 2 years 1-2 weeks after infection: - High fever (upto 40) lasting for 3-5 days - After fever rash presents: Blanching, mildly erythematous maculopapular rash on trunk and limbs, may spread to face - Nagayama spots - red papules on soft palate - Mild URTI, cough, diarrhoea

Answer 292

- Febrile convulsions - Immunocompromised: Encephalitis, myocarditis, GBS (rare)

Answer 293

1/3 of cases, more common in children Neonates (<3 months) - E.coli, Group B streptococcus, Listeria Monocytogenes Children - Neisseria meningitidis (meningococcus), Strep Pneumoniae, Haemophilus influenzae (less common due to vaccine) TB can cause meningitis (rare in developed areas)

Answer 294

2/3 of cases - less severe than bacterial - Enterovirus, HSV, mumps virus

Answer 295

- Fever - Neck stiffness - Severe headache - N&V - Altered mental status - Photophobia - Focal neurological signs - Seizures - Non blanching purpura - +ve kernig's and brudzinski

Answer 296

Non-specific: - Poor feeding - Hypotonia - Fever or hypothermia - Irritability - Crying - Bulging fontanelle (late sign) - Non blanching purpura

Answer 297

Caused by Neisseria meningitidis invasion of the bloodstream. Causes the characteristic non-blanching purpuric rash, which is caused by DIC. The rash is rarely due to other bacterial causes of meningitis.

Answer 298

LP: gold standard: - Bacterial: Cloudy, high neutrophils, high protein, low glucose. +ve culture - Viral: Clear, high lymphocytes, mild raised/normal protein, normal glucose - TB: Turbid/viscous, normal/slight neutrophils, high lymphocytes, high protein, low glucose Other: Bloods - FBC, U&E, LFT, clotting BM and blood gases Blood, urine, stool, throat cultures TB - Mantoux, sputum, urine

Answer 299

Signs of ICP: - Focal neurological signs - Papilloedema - Bulging fontanelle - DIC

Answer 300

Notifiable disease Bacterial: - <3 months: IV amoxicillin + IV cefotaxime - >3 months: IV cefotaxime (or ceftriaxone) Consider Vancomycin - risk of penicillin resistant pneumococcal infection Steroids: IV Dexamethasone >3 months if: - Frankly purulent CSF - CSF white blood cell count greater than 1000/microlitre - Raised CSF white blood cell count with protein concentration greater than 1 g/litre - Bacteria on gram stain Supportive: Analgesics, Anti pyrexials, high flow O2, IV fluids, mechanical ventilation if required (management in viral meningitis)

Answer 301

A single dose of oral ciprofloxacin

Answer 302

Bacterial: - Hearing loss (especially pneumococcal) - Seizures/epilepsy - Septicaemia - Cognitive impairment/learning disability - Cerebral palsy w/ FNS, limb weakness/spasticity - Death Viral: Generally good prognosis, with full recovery

Answer 303

Viral: HSV 1/2 (most common) VZV Enterovirus MMR Non infective: - Autoimmune - paraneoplastic Bacterial and fungal: are also possible but rare in uk

Answer 304

Inflammation of the brain parenchyma most commonly due to a virus. Associated with neurological dysfunction. Mainly HSV-1 (cold sores) in children and HSV-2 (genital herpes) in neonates.

Answer 305

- Fever - Headaches - Altered consciousness - Altered cognition - Acute onset of focal seizures - Acute onset of focal neurological symptoms - Unusual/psychotic behaviour

Answer 306

- LP - PCR testing, increased white cells/lymphocytes (contraindicated in raised ICP) - CT/MRI head - Routine bloods - Throat swabs

Answer 307

Suspected: IV aciclovir (specific for HSV) Others like ganciclovir (VSV, CMV, immunocompromised) - Supportive care: Hydration, anticonvulsants,

Answer 308

Permanent neurological deficits (LD, mood problems, ADHD), cognitive impairment, and seizures. Mortality is around 10-30% even with optimum treatment

Answer 309

Spread is by direct contact with discharges from scabs. Mainly by the hands but also spread via toys, clothing, equipment. Incubation is 4-10 days.

Answer 310

A highly contagious superficial bacterial infection caused by staph aureus (less commonly strep pyogenes). Primarily affecting infants and children.

Answer 311

Swabs may confirm diagnosis. Localised: - Topical fusidic acid or mupirocin Extensive disease: - oral flucloxacillin or oral erythromycin/clarithromycin If MRSA: Vancomycin IV fluclox or eryth if scalded skin syndrome (emergency) Hygiene measures to prevent spread, do not go to school.

Answer 312

Occurs around nose and mouth. Forming a golden crust (+/-) oozing blisters - No systemic symptoms

Answer 313

Always caused by staph aureus. Which produces epidermolytic toxins. - 1-2 cm fluid filled vesicles - More common in neonates and infants - May affect the body - Severe widespread lesions are called staphylococcal scalded skin syndrome (+ve Nikolsky sign, desquamation). Affects <5 yrs mainly

Answer 314

Bacterial skin infection caused by staph aureus caused by the release of exfoliative toxins which target desmosomes in the epidermis, leading to widespread blistering and peeling.

Answer 315

Mainly affects children <5 years, especially neonates

Answer 316

- Generalised erythema followed by blistering then peeling - +ve Nikolsky's sign - Fever, malaise, irritability

Answer 317

EMERGENCY: - Admit, often ICU - IV ABx (flucloxacillin, erythromycin) - Supportive (IV fluids, analgesia, wound care)

Answer 318

A severe, life threatening condition characterised by multisystem failure due to toxins caused by staph aureus or strep pyogenes.

Answer 319

- Most commonly occurs in young adults - Associated tampon use (menstrual TSS), postpartum infections, surgical scars.

Answer 320

- High fever (>39) - Localised swelling/erythema - Severe diffuse/localised pain - Desquamation soles/palms - Erythema of mucous membranes - Septic shock Multiorgan involvement: - Vomiting, diarrhoea, abdo pain - Confusion/delirium - Kidney failure

Answer 321

- IV antibiotics (Clindamycin, vancomycin) - IV fluids/vasopressors - ICU care (ventilation, dialysis) - Analgesia

Answer 322

SSSS is localised skin condition affecting infants and young children with widespread blistering, but without systemic shock or multiorgan involvement. TSS usually affects older children and adults.

Answer 323

Highly contagious URTI caused by bordetella pertussis, a gram -ve bacteria. Characterised by severe coughing followed by a high pitched inspiratory 'whoop'. Sometimes called 'cough of 100 days'

Answer 324

- 2, 3 and 4 months - 3 years (or soon after) - Pregnant women Never lifelong protection

Answer 325

- Incubation period: 7-10 days - Catarrhal stage (1-2 weeks): Viral URTI symptoms (cough, runny nose, sneezing, low grade fever) - Paroxysmal stage (2-8 weeks): Severe coughing fits (paroxysms), followed by the characteristic "whoop" sound (may cause subconjunctival haemorrhage) Vomiting after coughing fits Cyanosis Infants may have episodes of apnoea - Grandual recovery over week to months

Answer 326

- Nasal swab and culture - PCR - FBC = leukocytosis

Answer 327

- Notifiable disease - Admit under 6 months or vulnerable: supportive care - Macrolide ABx (Azithromycin, clarithromycin): beneficial within the first 21 days - School exclusion (for 48 hrs after ABx commenced) - Prophylactic ABx for close contacts

Answer 328

Condition caused by EBV, transmitted via saliva of infected individuals 'kissing disease.' Tends to be a mild disease in children but more severe in teenagers.

Answer 329

Triad: - Fever - Sore throat - Lymphadenopathy Others: Malaise, fatigue Palatal petechiae Hepatosplenomegaly (rarely splenic rupture) Tonsillitis may occur

Answer 330

FBC - Lymphocytosis/atypical lymphocytes Monospot or Paul-Bunnell test - presence of heterophile antibodies (react with horses or sheep RBCs) EBV antibodies - IgM (active) or IgG (chronic/immunity)

Answer 331

- 100% specific for EBV - May take up to 6 weeks to present - 70-80% sensitive

Answer 332

- Disease is self limiting 2-3 weeks - Supportive care: Rest, fluids, OTC painkillers, avoid alcohol - ABx only for tonsillitis Avoid contact sports/heavy lifting due to risk of splenic rupture

Answer 333

- Splenic rupture - Glomerulonephritis - Haemolytic anaemia - Thrombocytopenia - Chronic fatigue EBV is associated with cancer (burkitt's lymphoma)

Answer 334

- Amoxicillin, ampicillin and cephalosporins They induce an intensely itchy maculopapular rash

Answer 335

Fetal Hemoglobin (HbF): Predominantly produced in utero, composed of two alpha and two gamma chains. It has a higher affinity for oxygen than adult hemoglobin, facilitating oxygen transfer from the mother to the fetus. Newborn Hemoglobin (HbA): After birth, HbF production declines, and adult hemoglobin (HbA) with two alpha and two beta chains gradually replaces HbF. This transition occurs over the first 6 months of life.

Answer 336

Physiological Anaemia of Infancy: Around 6-8 weeks after birth, hemoglobin levels naturally drop as RBC production slows. This is due to the higher oxygen environment post-birth, which suppresses erythropoietin production. The Hb levels reach their lowest concentration at around 2 months Shift from HbF to HbA: The bone marrow gradually takes over red blood cell production, and by 6 months of age, HbA becomes the predominant form, by 1 HbF is very low in healthy children.

Answer 337

1. Reduced red cell production - either ineffective erythropoiesis or red cell aplasia 2. Increased red cell destruction 3. Blood loss - uncommon in children

Answer 338

Ineffective erythropoiesis - Defective survival of RBCs. Iron-deficiency (most common) B12 + folate deficiency chronic inflammation chronic renal failure (Rare - myelodysplasia, lead poisoning) Red cell aplasia: Parvovirus B19 Diamond-Blackfan Transient erythroblastopenia (Rare - Fanconi, aplastic, leukaemia)

Answer 339

Hereditary spherocytosis - RBC membrane disorders G6PD - RBC enzyme disorders Thalassemia, Sickle cell - Haemoglobinopathies Haemolytic disease of the newborn, autoimmune HA - Immune causes

Answer 340

Acute: Trauma, surgery, GI bleeding Chronic blood loss - heavy menstruation, GI Bleeding disorders Twin-twin transfusion, feto-maternal haemorrhage

Answer 341

TAILS: Thalassemia Anaemia of chronic disease Iron deficiency Lead poisoning Sideroblastic anaemia

Answer 342

3 A's and 2H's: Acute blood loss Anaemia of Chronic Disease Aplastic Anaemia Haemolytic Anaemia Hypothyroidism Also pregnancy

Answer 343

Megaloblastic: B12 and folate deficiency Normoblastic: Alcohol Reticulocytosis (usually from haemolytic anaemia or blood loss) Hypothyroidism Liver disease Cytotoxic drugs (azathioprine)

Answer 344

Fatigue Headaches SOB Slow feeding (infants) Dizziness Worsening of other conditions Iron deficiency: PICA (soil or chaulk) Hair loss

Answer 345

Pale skin Conjunctival pallor Tachycardia Raised respiratory rate Specific: Koilonychia, Angular cheilitis, Atrophic glossitis, Brittle hair and nails - iron deficiency Jaundice -haemolytic anaemia Bone deformities - thalassaemia

Answer 346

FBC - Hb and MCV Reticulocyte count Blood film - size, shape Serum bilirubin Iron studies - ferritin, serum, TIBC Hb electrophoresis or Hb liquid chromatography - Hb type

Answer 347

- Inadequate intake: Especially if not weaned onto solids at 6 months Breast milk - low Fe, 50% ab Cow's milk - low Fe, 10% ab Formula - high Fe, 10% ab - Malabsorption: Coeliacs, crohn's - Blood loss: Heavy menstruation

Answer 348

Low haemoglobin Blood film - microcytic hypochromic red cells (MCV < 80) Low ferritin, low serum iron, high TIBC

Answer 349

Dietary advice Oral iron supplements (ferrous sulfate or fumarate) - SEs - black stools, constipation Treat underlying malabsorption Blood transfusion (rare)

Answer 350

- Cognitive and developmental delay (chronic) - Growth retardation - Iron overload if transfusions/supplements

Answer 351

Definition: Deficiency in B12 or folate leads to impaired DNA synthesis and megaloblastic anaemia Clinical Features: Fatigue, pallor, glossitis, neurological symptoms (in B12 deficiency), failure to thrive Investigations: Macrocytic red cells (MCV > 100), low B12/folate levels, hypersegmented neutrophils Treatment: Oral/IM B12, folate supplementation Correct dietary deficiencies Rare in children

Answer 352

Definition: Bone marrow failure leading to reduced production of all blood cells. Parvovirus: A transient suppression of red cell production, typically seen in patients with underlying haemolytic disorders. Diamond-Blackfan: Congenital pure red cell aplasia. Clinical Features: Severe anaemia, pallor, fatigue, infections (due to pancytopenia), possible skeletal abnormalities (Diamond-Blackfan). Investigations: Low reticulocyte count, normocytic or macrocytic anaemia, bone marrow biopsy (hypocellular marrow). Treatment: Supportive care, transfusions, steroids, or bone marrow transplant (DBA). For parvovirus, supportive care is generally enough.

Answer 353

An autosomal dominant disorder where red blood cells become spherical making them fragile and destroyed prematurely in the spleen. It is an autosomal dominant condition primarily affecting Northern Europeans.

Answer 354

Clinical Features: Jaundice - increased RBC breakdown Splenomegaly Anaemia Recurrent gallstones - due to increased bilirubin May present with severe symptoms (anaemia) in an aplastic crisis usually due to parvovirus infection

Answer 355

Folic acid supplementation and splenectomy Cholecystectomy - if gallbladder issues Transfusions in acute crises if needed

Answer 356

X-linked enzymatic disorder (more common in males) causing red cell destruction in response to oxidative stress/crises (infections, certain drug or fava beans). G6PD enzyme protects cells from damage by ROS More common in Mediterranean, Middle Eastern and African patients

Answer 357

FHx and clinical presentation Blood smear - spherocytes Negative direct coombs test - no immune cause of haemolysis Positive osmotic fragility test and EMA binding test Haemolytic picture: Low Hb Raised reticulocyte count Raised lactate dehydrogenase Raised unconjugated bilirubin + urinary urobilinogen

Answer 358

Often presents with neonatal jaundice - Anaemia - Intermittent jaundice (triggers) - Gallstones - Splenomegaly Episodic jaundice, dark urine, pallor, fatigue, typically following a trigger.

Answer 359

Blood smear - Heinz bodies (denatured Hb within RBCs) G6PD enzyme assay - low levels Haemolytic picture: Low Hb Raised reticulocyte count Raised lactate dehydrogenase Raised unconjugated bilirubin + urinary urobilinogen

Answer 360

Avoidance of triggers (Drugs - e.g Primaquine, Ciprofloxacin, Nitrofurantoin, Trimethoprim) Supportive care during episodes (hydration, transfusions if severe).

Answer 361

An immune response condition where maternal antibodies target fetal RBCs, leading to haemolysis. The 2 main types are Rh and ABO incompatibility.

Answer 362

- Rh incompatibility: Rh -ve mothers develop antibodies to Rh +ve fetal blood cells during previous pregnancy or after sensitising events like delivery, miscarriage, or invasive procedures (amniocentesis). - ABO incompatibility: Naturally occurring anti-A or anti-B antibodies in a blood group O mother can react with the A or B antigens on the fetal red cells.

Answer 363

In Rh incompatibility, the maternal immune system recognizes fetal Rh-positive RBCs as foreign and produces IgG antibodies, which cross the placenta and cause haemolysis of fetal RBCs ABO incompatibility works similarly but typically results in milder haemolysis, as ABO antibodies are often IgM, which do not cross the placenta as easily as IgG. However, IgG anti-A or anti-B antibodies can cause haemolysis.

Answer 364

Screening: Maternal blood type and Rh status Direct Coombs test - positive in HDN USS - assess anaemia and fluid levels

Answer 365

- Severe jaundice and kernicterus (bilirubin-induced brain damage - Hydrops fetalis: Severe anaemia, ascites, pleural effusion, heart failure, and generalised oedema. - Hepatosplenomegaly Less severe symptoms in ABO incompatibility

Answer 366

Premature neonates are much more likely to become anaemic, this is due to: 1. Less time in utero receiving iron from the mother 2. Red blood cell creation cannot keep up with the rapid growth in the first few weeks 3. Reduced erythropoietin levels 4. Blood tests remove a significant portion of their circulating volume

Answer 367

Prevention: Anti-D immunoglobulin, single-dose at 28 weeks gestation - Intrauterine transfusions if severe anaemia - Exchange transfusion if severe - Intrauterine immunoglobulin - Phototherapy Monitor for developmental issues

Answer 368

A group of inherited blood disorders caused by mutations in the protein chains that make up Hb. This leads to reduced or absent production of one of the globin chains (alpha or beta), leading to abnormal red blood cells and anemia. Both types are autosomal recessive.

Answer 369

Primarily affects people from southeast asian, mediterranean, middle east, Africa. α thalassemia major primarily affects south east asians

Answer 370

Deletions or mutations of the alpha globin chains on chromosome 16

Answer 371

Type determines clinical severity: - 1 or 2α globin gene deletion: asymptomatic, low MCV - 3α globin gene deletion (Hbh disease): mild/moderate anaemia, may need transfusions - 4α globin gene deletion (Hb Barts hydrops): death in utero

Answer 372

Caused by mutations in the beta-globin gene on chromosome 11, leading to a deficiency in beta-globin chains

Answer 373

Lack of beta-globin chains leads to an excess of alpha-globin, which forms insoluble aggregates in red blood cell precursors, causing ineffective erythropoiesis, hemolysis, and severe anemia. The body compensates by increasing red blood cell production in the bone marrow and other tissues, leading to skeletal deformities and organ enlargement (especially spleen and liver).

Answer 374

Thalassaemia minor - 1 abnormal gene + 1 normal gene. Thalassaemia intermedia - 2 defective genes or 1 defective + 1 deletion. Thalassaemia major - No functioning beta globin genes.

Answer 375

Minor - mild microcytic anaemia Intermedia - Presents later in childhood or adolescence. - Moderate anemia - Not transfusion dependant Major - - Severe, transfusion-dependent anemia presenting in the first year of life (6-12 months) - Severe fatigue, pallor, failure to thrive, jaundice - Frontal bossing, "chipmunk facies") due to bone marrow hyperplasia - Hepatosplenomegaly - Delayed growth and puberty - Requires regular blood transfusions and iron chelation therapy

Answer 376

FBC: Microcytic, hypochromic anaemia Iron studies Blood smear: 'Target cells' or nucleated RBCs Haemoglobin electrophoresis or HPLC - Beta: Reduced or absent HbA with increased levels of HbF and HbA2. Alpha: In mild cases, Hb electrophoresis may be normal. In severe cases (HbH disease), abnormal hemoglobins like HbH or Hb Barts are present. Genetic testing

Answer 377

Mild/ thalassemia: Monitoring, genetic testing, family planning Beta thalassemia major: Regular blood transfusions Iron chelation therapy (e.g. desferrioxamine or oral chelators like deferasirox). Folic acid supplementation: To support red blood cell production. Splenectomy: May be considered Bone marrow or stem cell transplantation Alpha thalassemia: HbH disease - occasional transfusions and iron chelation. Hb barts - requires intrauterine transfusions or early delivery with immediate postnatal transfusions.

Answer 378

Affects more than 1 in 2000 live births, Approximately 8% of black people carry the sickle cell gene. Aetiology: Caused by a point mutation in the β-globin gene (HBB) on chromosome 11, resulting in the substitution of valine for glutamic acid at position 6.

Answer 379

An autosomal recessive condition which produces abnormal HbS, leading to chronic haemolytic anaemia, vaso-occlusive episodes and other complications.

Answer 380

Pathophysiology: Under low oxygen conditions, HbS polymerises, causing red blood cells (RBCs) to deform into a sickle shape. Sickled cells are rigid and prone to haemolysis, leading to chronic anemia. Sickled RBCs obstruct small blood vessels, causing ischemia and tissue damage (vaso-occlusion).

Answer 381

Sickle cell anaemia (HbSS): Patient is homozygous for HbS. Virtually all Hb is HbS HbSC: HbS from one parent and HbC (other abnormal variant) from another. Milder than HbSS Sickle-beta thalassemia (HbS/β-Thalassemia): 1 sickle cell gene (HbS) and 1 β-thalassemia gene. Can produce no (severe anaemia) or reduced beta globin Sickle cell trait: 1 HbA and 1 HbS. Carrier

Answer 382

Severe pain associated with tissue ischaemia: Commonly in the chest, abdomen, back, joints Typically presents with swelling of the hands or feet It can cause priapism (emergency)

Answer 383

Heterozygous: Asymptomatic, protection against falciparum malaria Homozygous: - Acute vaso-occlusive crisis - Chronic haemolysis (jaundice, pallor, gallstones) - Infection - increased susceptibility especially to pneumococcus and HI) - Splenomegaly

Answer 384

Blocking of blood flow to the spleen. Causing an acutely, enlarged spleen. Can lead to severe anaemia and hypovolemic shock. May cause splenic infarction, leading to hyposplenism and susceptibility to infections.

Answer 385

Temporary absence of the creation of new red blood cells. Usually caused by parvovirus b19, causing significant anaemia.

Answer 386

Analgesia Good hydration (IV fluids may be required) Antibiotics or antivirals for infection Blood transfusions for anaemia Incentive spirometry using a machine that encourages effective and deep breathing Respiratory support with oxygen, non-invasive ventilation or mechanical ventilation

Answer 387

Occurs when the vessels supplying the lungs become clogged with red blood cells. A vaso-occlusive crisis, fat embolism or infection can trigger it. Presents with fever, shortness of breath, chest pain, cough and hypoxia. A CXR will show pulmonary infiltrates. Medical emergency

Answer 388

- Avoid triggers for crises, such as dehydration, excessive exercise, keep warm - Up-to-date vaccinations - Hydroxycarbamide (stimulates HbF) - Crizanlizumab (binds to P-selectin which stops RBCs binding to endothelium) - Blood transfusions for severe anaemia - Bone marrow transplant can be curative

Answer 389

Is an X-linked recessive bleeding disorder caused by a deficiency in clotting factors. Haemophillia A is caused by a Factor 8 deficiency and Haemophillia B by a 9 deficiency.

Answer 390

- ABCDE - Analgesia (IV morphine/paracetamol/ibuprofen) - FBC, reticulocytes, infection screen - X-match and transfusion - Enoxaparin

Answer 391

Varying severity. Most children present towards the end of the first year of life (start to walk, run, fall). Can also present in the neonatal period with ICH, after circumcision, heel-prick, venepuncture. Features: Spontaneous joint/muscle bleeds (recurrent hemarthrosis - key complication) Excessive bruising Prolonged bleeding after minor trauma or surgery ICH (severe and high mortality)

Answer 392

H.A is more common than H.B 30% of patients have no family history Almost all male, females are usually carriers

Answer 393

Activated partial thromboplastin time (APTT): Prolonged (assesses intrinsic pathway) Prothrombin time (PT) - normal (extrinsic pathway) Plasma factor 8 and 9 assay - decreased or absent LFTs - normal Genetic testing

Answer 394

Avoid NSAIDs and IM injections Acute bleeds: Elevation, compression and tranexamic acid IV recombinant factor VIII/XI - given asap Mild disease: Desmopressin (releases factor VIII and VWB from endothelial stores) Severe or before major surgery: Regular prophylactic IV factor May develop antibodies against factor replacement (especially severe H.A) - Monoclonal antibody Emicizumab now available which binds factors 9a and 10

Answer 395

Most common inherited bleeding disorder, caused by a deficiency or dysfunction of von Willebrand factor (vWF), a protein crucial for platelet adhesion and stabilisation of Factor VIII. This leads to impaired clotting, resulting in bleeding tendencies.

Answer 396

- Autosomal dominant mostly - 1/100 affected

Answer 397

Type 1 involves a partial deficiency of VWF - mildest, most common. Usually presents in puberty/adulthood Type 2 involves the reduced function of VWF Type 3 complete absence - most rare and severe

Answer 398

- Easy bruising - Mucosal bleeding - frequent nosebleeds, heavy menorrhagia - Prolonged bleeding from cuts - Post-op bleeding If severe, similar to haemophillia (joint and muscle bleeds)

Answer 399

Prolonged bleeding time APTT: slightly prolonged due to factor 8 degradation VWF antigen - low levels Factor VIII levels - usually within range, may be low

Answer 400

Depends on severity: Mild: - Desmopressin (may cause hyponatremia, regulate fluid intake) - Tranexamic acid for minor bleeds Moderate-severe: VWF replacement (+/-) factor VIII replacement Avoid NSAIDs and IM injections Consider options for heavy menorrhagia: Tranexamic acid, mirena coil, combined oral contraceptive pill

Answer 401

An autoimmune disorder characterised by isolated thrombocytopenia due to type II immune-mediated destruction of platelets. It can be acute (common in children) or chronic (lasting more than 6 months).

Answer 402

Autoantibodies (usually bind to platelet surface antigens, marking them for destruction by macrophages, primarily in the spleen. This results in accelerated platelet destruction, and consequently, thrombocytopenia.

Answer 403

Usually present in children under 10 years after a recent viral illness. Onset occurs over 24-48 hours. - Bleeding (epistaxis, gums, menorrhagia) - Bruising - Petechial or purpuric rash (caused by bleeding under the skin) The child is otherwise well

Answer 404

Benign/self limiting: usually 6-8 weeks (80%) Depends on severity of platelet count - Monitor If severe or active bleeding: - oral prednisolone or IVIg - Blood transfusions (if needed) - Platelet transfusion (only temporary) Avoid contact sport, NSAIDs, IM injections

Answer 405

- ALL (80% cases) - AML next most common - CML is rare

Answer 406

FBC and blood film - low platelets If atypical features: - Lymphadenopathy - neutropenia/anaemia - Hepatosplenomegaly Then bone marrow examination to exclude leukaemia/aplastic anaemia

Answer 407

Occurs in 20% of cases, >6 months. Oral pred or IVIg Persistently severe: (Rare) - Monoclonal antibodies - Splenectomy

Answer 408

Environmental: Exposure to radiation e.g Abdo x ray during pregnancy FHx of leukaemia Genetic predisposition: Down's, Kleinfelter's, Noonan's, fanconi anaemia

Answer 409

Genetic mutation of one of the precursor cells in the bone marrow lead to excessive production of a single type of white blood cell. e.g. Lymphoblasts in ALL or myeloid cells in AML

Answer 410

- ALL - peak incidence 2-5 years, slightly more common in boys - AML - Under 2 years

Answer 411

General: Malaise, failure to thrive, night sweats 1. Bone marrow infiltration/failure: - Anaemia (pallor, fatigue, dizziness) - Neutropenia (Recurrent infections, fever) - Thrombocytopenia (Easy bruising, petechiae) - Bone/joint pain: bone marrow expansion 2. Reticuloendothelial infiltration: Lymphadenopathy, hepatosplenomegaly 3. Organ infiltration: More common at relapse. CNS involvement; Headaches, cranial nerve palsies (more common in ALL), testicular enlargement (more ALL) - Hypertrophy of the gums, more bleeding and skin infiltration/leukaemia cutis (more common in AML)

Answer 412

FBC - can show anaemia, thrombocytopenia, neutropenia. Leukocytosis (low/high abnormal WBCs) Blood film - Blast cells Bone marrow biopsy - Diagnostic CXR - to diagnose mediastinal mass (T-cell disease) LP - identify CSF disease

Answer 413

- Age <2 and >10 - WBC >20 x 10^9/L - T or B cell markers - Poor response to induction regime

Answer 414

- Chemotherapy: includes steroids and intrathecal chemo (CNS prophylaxis) - Prophylactic co-trimoxazole: Pneumocystis pneumonia - Allopurinol: prevents tumour lysis syndrome - Newer options: CAR-T cell therapy and monoclonal antibodies - Relapse prevention: Bone marrow transplant (+/-) CAR-T

Answer 415

FBC - can show anaemia, thrombocytopenia, neutropenia. Blood film - blast cells Bone marrow biopsy - Diagnostic - Auer rods

Answer 416

Malignancies of the cells of the immune system. Split into hodgkin's and non-hodgkin's. NHL is more common in childhood and HL is more common in TYA.

Answer 417

- HIV - EBV

Answer 418

NHL are lymphomas that are not HL: - Diffuse large B cell lymphoma - presents as growing painless mass in older patients - Burkitt's lymphoma - associated with EBV and HIV - MALT lymphoma - mucosa-associated lymphoid tissue, usually around the stomach

Answer 419

- EBV (especially burkitt's) - HIV and other causes of immunosuppression - FHx - Autoimmune conditions (R.A, sarcoidosis, Sjögren’s) - H.pylori infection (MALT) - Genetic - (HL: Wiskott-Aldrich, NHL: LFS, Down's)

Answer 420

HL: Usually systemically well - Painless lymphadenopathy (maybe Lymph pain after alcohol) - Mass effects due to enlarged lymphnodes B symptoms (40%): Fever, night sweats, weight loss NHL: Usually unwell - Painless lymphadenopathy - Mass effects due to enlarged lymphnodes Abdominal mass/pain from obstruction B symptoms (20%)

Answer 421

Compression of the superior vena cava: shortness of breath and facial oedema (mediastinal mass) Compression of the biliary tree: jaundice Compression of the ureters: hydronephrosis Bowel obstruction: vomiting and constipation Impaired lymph drainage: pleural effusion or peritoneal fluid, or lymphoedema of the lower limbs

Answer 422

Lymph Node biopsy: - HL: Reed-Sternberg cells (large cancerous B lymphocytes with two nuclei and prominent nucleoli) - NHL: No R-S cells CT/MRI/PET scan to determine stage of disease CXR: mediastinal mass

Answer 423

Staging for lymphoma: Stage 1: Confined to one node or group of nodes Stage 2: In more than one group of nodes 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

Answer 424

Chemotherapy (+/-) radiotherapy (especially HL) Monoclonal antibody (Rituximab) Stem cell transplant Chemo SE: infections, cognitive impairment, secondary cancers, infertility. Radio SE: tissue fibrosis, secondary cancers and infertility.

Answer 425

Cancer of the neural crest cells typically in adrenal gland or SNS. Most common extracranial tumour in children. Primarily affecting under 5's (especially males under 18 months

Answer 426

Depends on primary site: - Abdominal mass (from adrenal gland) - most common - Abdominal distension, constipation Signs of metastasis (70% of cases): - Weight loss, anorexia, malaise, pallor - Skin: palpable, non-tender nodules or blueberry muffin rash - Eyes: Periorbital ecchymosis - Spine: Cord compression (lower limb numbness, weakness, back pain, incontinence) Neck: breathless, dysphagia, horner's syndrome Bone: Bone pain, limp Liver: Hepatomegaly, abdo pain

Answer 427

Genetic mutations - ALK, PHOX2B, MYCN Genetic syndromes: Turner's syndrome Hirschsprung's disease Congenital central hypoventilation syndrome Neurofibromatosis type 1

Answer 428

1. Urinary catecholamines: Sensitive and specific. Elevated levels of VMA and HVA (breakdown of nor/adrenaline) 2. FBC: May show pancytopenia 3. Serum electrolytes: May show tumour lysis syndrome 4. USS abdomen, CT/MRI abdomen 5. MIBG scan + bone marrow biopsy - for metastasis Tumour biopsy - diagnostic

Answer 429

Very urgent referral (48 hours) Low risk disease: May just observe (may regress), Chemotherapy Surgery (removal) Radiotherapy Immunotherapy Isotretinoin

Answer 430

High risk NB: <50% survival MYCN amplification, >1 years are poor prognostic markers

Answer 431

Cancer of embryonic renal tissue. Most common renal tumour of childhood and primarily affects <5 years. Rarely affects >10

Answer 432

- Congenital urogenital anomalies - Congenital syndromes (Beckwith-Wiedemann, Perlman's, WAGR syndrome) - FHx - WT1 and WT2 gene mutation

Answer 433

Large abdominal mass (often only symptom), does not cross midline. May be bilateral (5% cases) Other: Haematuria Abdominal pain Anorexia/weight loss Anaemia Hypertension Fever 20% are metastatic at presentation (Lung mainly, liver) - may have SOB, hepatosplenomegaly

Answer 434

Tumor excision/nephrectomy Adjuvant chemotherapy (post surgery) Adjuvant radiotherapy (advanced disease)

Answer 435

Renal USS - shows mass CT/MRI scan - stage tumour, assess for mets (lung) Tumour biopsy/histology - Definitive

Answer 436

Early presentation - 90% 5-year survival Present with mets - 60% Recurrence rate is low

Answer 437

Astrocytomas (40%) - mostly benign/low grade. Located in the cerebral hemispheres. Medulloblastoma (20%) - Malignant. Posterior fossa (cerebellum), spread via CSF. Ependymoma (5-10%) Malignant. Cells lining ventricles. Posterior fossa (cerebellum) Brainstem glioma (5-10%) - Cranial nerve and pyramidal tract . Very poor prognosis Craniopharyngioma (4%) - Benign. Pituitary embryonic tissue (Rathke's pouch).

Answer 438

Raised ICP: Persistent headaches (especially morning) Vomiting (morning) Seizures (without fever) Papilloedema Drowsy/irritable/behaviour change Ataxia/abnormal eye movements (nystagmus) - (posterior fossa) Bitemporal hemianopia/pituitary sx (craniopharyngioma) Developmental regression/delay Bulging fontanelle

Answer 439

- Surgery + chemotherapy (+/-) radiotherapy - Steroids (pressure sx) - Anti-epileptics (seizure sx) - Rehab

Answer 440

Cancers of the connective tissue, muscle and bones. In children the main ones are: Bone sarcoma: Osteosarcoma, Ewing sarcoma Soft-tissue: Rhabdomyosarcoma

Answer 441

Cancer of muscle/fibrous tissue. Sx can develop anywhere in the body depending on site. Usually a painless lump. Most common sites in children: Head and neck (40%) - Proptosis (bulging eyes), nasal obstruction/bloody discharge Genitourinary: Dysuria, haematuria, urinary obstruction, scrotal/perineal mass, bloody PV discharge May present with metastatic disease (15%) - lung, liver, bone marrow - Poor prognosis Ix: Biopsy, MRI/CT/PET, bone marrow biopsy Mx: Chemo (+/-) surgery (+/-) radiotherapy 65% cure rate

Answer 442

Bone tumours are uncommon before puberty. Osteosarcoma is more common but Ewing's is seen more often in children. Male predominance. Sx: Persistent, localised bone pain, limp, swelling and pathological fracture. Palpable soft-tissue mass (Ewing's) Red flag - progressive pain, nocturnal pain, reluctance to weight bear Ix: Bone biopsy (definitive) Bone X-ray (destruction + new bone formation) CT/MRI/PET CXR - lung mets, Bone marrow biopsy - mets Mx: Chemotherapy then surgery (limb-sparing if possible) Radiotherapy in Ewing's sarcoma (if localised or in inoperable region - pelvis) Targeted therapies/immunotherapy

Answer 443

Malignant neoplasm of the retinal cells. Most common intraocular tumour in paediatrics. Very rare but can cause visual impairment. Most cases occur <3 years.

Answer 444

- Fundoscopy and examination under anaesthetic - chalky, white-grey retinal mass - MRI head - Genetic testing (RB1 mutation) - LP and bone marrow biopsy (CSF and bone mets)

Answer 445

All bilateral cases are inherited, 20% of unilateral cases are inherited. Autosomal dominant - Mutation of RB1 gene on chromosome 13 - None inherited are somatic mutations of same gene

Answer 446

- Leukocoria (White pupillary reflex) - Strabismus (abnormal alignment of the eyes) - Sore, swollen eye (pseudo orbital cellulitis) - Vision change/loss Systemic sx if metastasis

Answer 447

- Chemotherapy and laser ablation - Enucleation if advanced disease (try to preserve vision) - Radiotherapy if advanced disease Cure rate - >90%, many have vision loss, secondary cancer risk

Answer 448

Undescended testes. Where one or both testes fail to descend through the inguinal canal and into the scrotal sac, this usually occurs in the 26-40 week gestation.

Answer 449

- FHx - LBW/preterm birth - Small for gestational age - Maternal smoking in pregnancy

Answer 450

- <3 months may spontaneously descend - Referral to paediatric urology <6 months - Orchidopexy - between 6-12 months - Bilateral undescended testes - urgent (24 hours) to a senior paediatrician for endocrine/genetic testing (rule out CAH)

Answer 451

The testis may be: - Palpable or nonpalpable - Unilateral or Bilateral Retractile testis - this is usually normal in young boys, where the testes retract in response to cold or activation of the cremasteric reflex.

Answer 452

1st line: Examination - palpate/scrotum - try to manipulate testes into scrotum USS - if impalpable to confirm presence or absence Laparoscopy - if impalpable Hormonal tests - hCG injection stimulates testosterone if testicular tissue is present (done in bilateral undescended testes)

Answer 453

- Infertility - Increased risk of testicular cancer - Testicular torsion - Cosmetic/psychological

Answer 454

A urological emergency that occurs when the spermatic cord twists, cutting off the blood supply to the testicle, leading to ischemia and potential necrosis.

Answer 455

- Teenage (12-18yrs), rarely in neonates - Congenital abnormality (bell-clapper) - Trauma - Undescended testicle

Answer 456

- Acute, severe pain (unilateral) - Intermittent pain (if spontaneous detorsion) - Nausea, vomiting - Firm, Swollen, tender testicle, retracted upwards - Absent cremasteric reflex - Negative prehn's sign (pain not relieved on elevation)

Answer 457

- Clinical (do not delay treatment) - Doppler USS (shows absent blood flow to testes) - Scrotal USS (Whirlpool sign) - Urinalysis (rule out infection)

Answer 458

- Urgent surgical exploration - Orchiopexy -correction and fixation of both testicles to prevent future torsion - Analgesia/antiemetics as required - Orchidectomy if necrosis/delay

Answer 459

The fixation between the testicle and the tunica vaginalis is absent. The testicle hangs in a horizontal position (like a bell-clapper) instead of the typical more vertical position. It is also able to rotate within the tunica vaginalis, twisting at the spermatic cord.

Answer 460

Twisting of the embryological remnant (hydatid of morgagni) on the upper pole of the testes. Usually occurs in prepubertal boys. The testicle remains unaffected.

Answer 461

Similar to T. torsion: - Less severe, onset over days - Localised to superior aspect of testicle - No associated symptoms (N&V) - Blue 'dot sign' may be present - Doppler USS (normal flow to testes)

Answer 462

Conservative: analgesia, rest, Surgical: If persistent, removal of the appendage

Answer 463

- Unilateral testicular pain (develops over days) - Swollen, red, tender testicle - Fever, malaise (potentially sepsis) - Urethral discharge (if STI) - Dysuria (if UTI) - Positive Prehn's sign Testicular torsion until proven otherwise

Answer 464

- STIs (chlamydia, gonorrhea) - UTIs (E.coli) - Mumps (see parotid gland swelling, usually only affects the testicle)

Answer 465

Inflammation of epididymis (+/-) testes usually due to viral or bacterial infection. Usually UTIs, STIs, mumps.

Answer 466

- Urine MC&S - Chlamydia and gonorrhoea NAAT testing on a first-pass urine - Charcoal swab of purulent urethral discharge for gonorrhoea culture and sensitivities - Saliva swab for mumps - USS to rule out torsion

Answer 467

Septic - Hospital admission - IV ABx - If STI, urgent referral to sexual health - ABX for specific organism Enteric (E.coli) - Quinolones (Ofloxacin for 14 days, Levofloxacin for 10 days) Co-amoxiclav for 10 days STIs - specific organism dependant - Analgesia, abstain from intercourse

Answer 468

Is mainly an autoimmune condition where the immune system destroys insulin-producing pancreatic beta cells leading to insulin deficiency.

Answer 469

- Tendon damage or rupture (especially achilles) - Lower seizure threshold

Answer 470

- Predominantly presents in children/young adults - Prevalence higher in northern europeans - Incidence increasing

Answer 471

Genetic: HLA-DR3/4 increased risk Environmental (not well understood): Viral infections (enterovirus, coxsackie B), cow's milk, overnutrition

Answer 472

Autoimmune destruction of the Beta cells in the pancreas. Autoantibodies against specific beta cell autoantigens are made (anti-islet cell, anti-insulin, anti-GluAD). T-cell activation leads to beta-cell inflammation (‘insulitis’) and to subsequent cell loss through apoptosis. Without insulin, glucose cannot enter cells for metabolism, leading to hyperglycemia and a reliance on fat and muscle for energy. This results in ketone production and the risk of diabetic ketoacidosis (DKA).

Answer 473

Hyperglycemia with: - Polydipsia - Polyuria - Weight loss (mainly through dehydration) Nocturnal enuresis (maybe secondary), infections, signs of DKA. Children usually have these symptoms for 1-6 weeks before developing DKA

Answer 474

Symptoms + Random plasma glucose = >11.1 mmol/L - Fasting plasma glucose = >7 mmol/L - HbA1c = >6.5% (48 mmol/L) Others: - TFTs and TPO - to look for associated autoimmune thyroid disease - Anti ttG - associated coeliacs disease - Beta cell autoantibodies

Answer 475

Intensive education for child and parents: - Injection of insulin + blood glucose monitoring - Diet & exercise: carb intake, adjustment for activity, alcohol - Sick day rules - Short & long term complications - signs of DKA,hypos etc Insulin: Basal-bolus regimen - 1-2x a day long acting (Levemir or Lantus) 30 mins before meal short acting (Actrapid, humulin S) OR Insulin pump - continuous infusion of short/rapid acting insulin. - Tethered: Controls on the pump itself, connected to the insertion site and kept in belt etc. - Patch: Controlled by a remote, when they run out of insulin they are replaced.

Answer 476

Monitor long and short term complications at annual review growth/development, macro/microvascular complications (BP, renal, eyes, foot), associated immune conditions (TFT, coeliacs, RA) Short: - Hypoglycaemia - Hyperglycaemia (DKA)

Answer 477

- HbA1c - glycated haemoglobin giving average blood glucose over last 3 months - Capillary blood glucose - finger prick - Flash glucose monitoring (Freestyle Libre) - Sensor on skin that measure glucose in the interstitial fluid in subcut tissue. Records levels at short intervals, needs to be replaced after 2 weeks. 5 minute delay

Answer 478

Due to chronic exposure to hyperglycemia: Macrovascular - CAD, peripheral ischaemia (ulcers, diabetic foot), stroke, hypertension Microvascular - Peripheral neuropathy, retinopathy, kidney disease (glomerulosclerosis) Infection (suppressed immune system) - UTIs, pneumonia, skin/soft tissue infections, fungal infections (candidiasis)

Answer 479

Life threatening emergency. Most common way new T1DM presents: - 'Pear drop' (Acetone) smelling breath - Abdominal pain - Polyuria, polydipsia, dehydration - N&V - Hyperventilation (Kussmaul breathing) - Drowsiness/coma - signs of underlying cause- e.g. sepsis: Fever/hypothermia, hypotension

Answer 480

During the course of an illness, insulin must not be stopped More regular glucose monitoring is needed (every 1-2 days) If food intake is reduced try and supplement with very high calorie foods Insulin dose may need to be adjusted if ketosis increases and BM increases

Answer 481

Blood glucose: >11.1 mmol/L Blood ketones: >3 mmol/L Acidosis: pH <7.3 or HCO3- <15 mmol/L U&Es ECG: for hypokalemia

Answer 482

1. ABCDE 2. Fluid resuscitation & ongoing rehydration (cautiously) - 0.9% saline (10 ml/kg over 30 mins) 3. Fixed rate high dose insulin (0.1 units/kg/h) 4. K+ replacement and glucose replacement (when BG <15 mmol/L - 5% dextrose) 5. Identify & treat underlying cause - e.g. Abx When stable (ketones <0.6, alert, no N&V) - switch to subcut insulin + regular meals

Answer 483

- Sweating, pallor, palpitations/tremor Severe: Headaches, confusion, drowsiness, seizures, confusion - Hypotonia, poor feeding in infants BG - <2.6 mmol/L

Answer 484

DKA puts patients at higher risk of cerebral oedema. As dehydration and hyperglycemia move water into extracellular space, causing brain cells to shrink. Rapid correction of fluid levels can cause a huge shift of water into cells, causing them to become oedematous leading to death. Sx - headaches, agitation, reduced GCS, bradycardia Tx - slow IV fluids, IV mannitol, IV hypertonic saline

Answer 485

Sweating, pallor, palpitations/tremor Severe: headaches, vision changes, drowsiness/confusion, seizures, coma Infants: hypotonia, poor feeding

Answer 486

- Neonatal hypoglycaemia (common) Insulin excess: - Exogenous insulin dose (DM) - Insulinoma - Sulfonylurea induced - Alcohol Without hyperinsulinemia: - Liver disease - inborn errors of metabolism - glycogen storage disorders - Hormonal deficiency - Addison's, CAH, GH deficiency

Answer 487

- Physical exam - short/pigmentation suggests hormonal issue, hepatomegaly suggests glycogen storage disease/liver disease - BM & ketones - FBC, u&E, CRP, TFTs, blood gas - Hormones - insulin, C-peptide, GH, cortisol - Urinalysis - pH, ketones

Answer 488

1. Oral fast acting glucose: sugary drink/glucogel 2. IV glucose: 2 ml/kg dextrose bolus then 10% dextrose infusion 3. IM glucagon - unconscious/fail to respond

Answer 489

1. Precocious puberty 2. Premature thelarche - early breast development 3. Premature adrenarche/pubarche - early pubic hair development 3. Isolated premature menarche

Answer 490

Development of secondary sexual characteristics before the age of 8 in girls and 9 in boys.

Answer 491

True/central: Gonadotropin dependant (early activation of HPG axis) False/pseudo: Gonadotropin independent (excess sex steroids outside the pituitary)

Answer 492

Central: - Idiopathic (90%) - Brain tumour - Brain injury: Trauma, post infection, hydrocephalus Pseudo: - Gonadal tumour - Adrenal, liver tumours - Congenital adrenal hyperplasia - Exogenous sex steroids Girls - usually idiopathic/familial and leads to normal puberty Boys - More likely an organic cause

Answer 493

- Rapid growth - Advanced bone age - Early development of 2ndary sexual characteristics - Menstruation - Acne - Behavioural change

Answer 494

- FHx, exam - Hormone screen - Oestradiol/testosterone, FSH/LH (Raised FSH + LH suggests central, low levels suggest false) - Growth chart - X-ray hand: bone age - Orchidometer: >4mm puberty has started - USS ovaries/uterus - pear shaped uterus suggests puberty has started, endometrial thickness (6-8mm) suggests imminent menarche - MRI - hypothalamic tumours

Answer 495

Testes are relatively insensitive to secretion of gonadotropins so GT dependant causes are rare: - Bilateral enlargement of testes: Suggests GnT dependant cause; intracranial tumour or rarely a bHCG secreting liver tumour - Unilateral enlargement: Suggests gonadal tumour - Prepubertal testes: GnT independent cause; adrenal tumour, CAH

Answer 496

Central: Gonadotropin releasing hormone analogues Pseudo: Identify & treat the underlying cause of sex hormone excess. (Androgen inhibitors or aromatase inhibitors)

Answer 497

- Premature growth plate fusion - leading to short/reduced final height - Psychosocial issues - may need counselling

Answer 498

When breast development (rarely beyond stage 3) usually occurs from 6m-2 years. Differentiated by no presence of pubic hair, growth spurt. Usually self limiting/non-progressive and does not need intervention

Answer 499

Early pubic hair but no other signs of sexual development. Caused by early maturation of androgen production in adrenal glands. Usually self limiting but may lead to a more aggressive course of virilization (non classic CAH or adrenal tumour) Ix - Rule out CPP or CAH. Girls may be at increased risk of developing PCOS later in life

Answer 500

Absence of pubertal development by 13y in girls and 14y in boys. It is more common in males.

Answer 501

Constitutional delay in growth & puberty (most common) - late bloomers, normal puberty eventually Hypogonadotropic hypogonadism: Low FSH + LH - Systemic disease (CF, anorexia, IBD, organ failure, exercise) - Pituitary disorders (tumour, damage) - Isolated gonadotropin and Gh deficiency - Hypothyroidism - Kallmann syndrome Hypergonadotropic hypogonadism: gonads fail to respond to FSH + LH, no -ve feedback, so high FSH + LH - Damage to gonads (torsion, surgery, cancer, infections e.g mumps) - Congenital absence - Genetic - Klinefelter's, Turner's - Steroid hormone enzyme deficiency

Answer 502

- Initial: FBC, ferritin, coeliac screen, U&Es, IBD screen - Hormonal blood tests: TFTs, FSH + LH levels (morning), GH deficiency (Insulin-L GF 1), prolactin - Genetic: Kleinfelter's, Turners - X-ray hand: bone age, pelvic USS, MRI brain

Answer 503

- Treat underlying cause if present - Reassurance and monitoring in constitutional delay - Replacement sex hormones (oestrogen + testosterones)

Answer 504

A family of rare, autosomal recessive disorders that impair adrenal steroid biosynthesis (cortisol, aldosterone. The cortisol deficiency causes an increased secretion of ACTH by the anterior pituitary which increases the production of androgens?

Answer 505

21-hydroxylase deficiency: Most common (90%) - 11 beta-hydroxylase deficiency (rare) - 17-hydroxylase deficiency (very rare)

Answer 506

21-hydroxylase converts progesterone into aldosterone and cortisol. Also used in testosterone production but not reliant. Because of the deficiency/defect in the enzyme the free progesterone converts into testosterone. Resulting in low aldosterone, low cortisol and abnormally high testosterone. Deficiency in aldosterone and cortisol causes pituitary to increase ACTH production, which stimulates the adrenal sex hormone pathway as there is unimpaired synthesis, cause hyperplasia of zona reticularis.

Answer 507

Very variable depends on the deficiency type and the severity. Severe cases: - Females present with ambiguous (virilized) genitalia Hyponatremia, hyperkalemia and hypoglycaemia leading to: - Poor feeding - Hypotension - Dehydration - Vomiting - Arrhythmias Mild cases: Precocious puberty Tall for age (short stature in adulthood) Severe acne Deep voice Large penis/small testicles (males) Hirsutism, Absent/irregular periods (females) Hyperpigmentation (ACTH by product is MSH)

Answer 508

Specialist referral to paediatric endocrinologist - Hydrocortisone (for cortisol replacement) - Fludrocortisone (for aldosterone replacement) -

Answer 509

- Serum 17 hydroxyprogesterone (precursor) - raised - ACTH stimulation (raised) - Serum electrolytes - Blood glucose - Surgery for virilized genitalia in females

Answer 510

- Adrenal crisis - Testicular adrenal rests (benign tumours) - Short adult stature - Osteopenia

Answer 511

1. Primary (Addison's) - Adrenal gland damage. Usually autoimmune, leading to reduced cortisol and Aldosterone 2. Secondary - Inadequate ACTH, damage/loss of pituitary. (congenital hypoplasia, surgery, infection, radiotherapy) 3. Tertiary - Inadequate CRH from hypothalamus. Usually result of long term steroids being stopped abruptly.

Answer 512

Neonates: Usually present acutely Lethargy Hypoglycemia, hyperkalemia, hyponatremia Hypotension Vomiting Dehydration Poor feeding/failure to thrive Jaundice Children: N&V Poor weight gain/weight loss Abdominal pain Muscle weakness/cramps Developmental delay Bronze skin in addison's (MSH)

Answer 513

Replacement steroids depending on severity: - Hydrocortisone (glucocorticoid replacement) - Fludrocortisone (mineralocorticoid if deficient) Steroid card Sick day rules - increase dose, monitor BM, IM steroid injection if diarrhoea/vomiting

Answer 514

- U&Es, blood glucose - Diagnosis - Cortisol, ACTH, aldosterone, renin Primary: Low cortisol + aldosterone, High renin + ACTH Secondary: Low cortisol, low ACTH, normal aldosterone + renin ACTH stimulation: Short synacthen test

Answer 515

Acute presentation of severe adrenal insufficiency: - Reduced consciousness - Hypotension - Hypoglycemia, hyponatremia, hyperkalemia Can be first presentation or induced by infection, trauma, acute illness

Answer 516

- Intensive monitoring (electrolyte balance, fluid balance) - Parenteral steroids (IV hydrocortisone) - IV fluid resuscitation - Correct hypoglycaemia

Answer 517

A recognised cause of delayed puberty due to hypogonadotropic hypogonadism. Usually X-linked recessive (mainly males). Thought to be due to failure of GnRH-secreting neurons to migrate to the hypothalamus. Features: Delayed puberty (low FSH, LH, low sex hormones) Anosmia Hypogonadism, undescended testes Associated with cleft lip/palate and hearing/visual defect Tx: testosterone replacement, gonadotropin supplementation may result in sperm production

Answer 518

Glucocorticoid excess - Long term glucocorticoid excess (iatrogenic) - most common. E.g. nephrotic syndrome, asthma etc To reduce effects, take meds in morning, on alternate days Other: pituitary adenoma, ACTH-secreting tumour, adrenal tumour (all rare)

Answer 519

- Central obesity + short stature (unlike dietary excess) - 'Moon face' - Hirsutism - Hypertension - Osteopenia - Striae - Psychological problems - Bruising

Answer 520

- Serum cortisol levels - loss of diurnal variation - Dexamethasone suppression test - high cortisol levels after dexamethasone - MRI abdomen and head - if other cause suspected

Answer 521

Congenital: Screened in newborn spot test - Maldescent of thyroid - Dyshormonogenesis: Inborn error of thyroid synthesis - Iodine deficiency - Pituitary/hypothalamus disorder: Rare. Acquired: - Autoimmune thyroiditis (most common) - Associated with Downs, Turners, T1DM and coeliacs

Answer 522

Congenital: Prolonged neonatal jaundice Poor feeding Constipation Increased sleeping Reduced activity Slow growth and development Coarse facies, large tongue Acquired: Females>males Fatigue and low energy Poor growth/delayed puberty Weight gain/obesity Poor school performance/learning difficulty Constipation Dry skin and hair loss Cold intolerance

Answer 523

Diagnosis: Newborn spot test (Guthrie), Raised TSH, decreased T4. Low TSH in pituitary/hypothalamus issues (rare) In acquired: TFTs (TSH, T3 and T4), thyroid ultrasound and thyroid antibodies. Lifelong levothyroxine: In neonates start immediately due to risk of severe neurodevelopmental impairment.

Answer 524

X-linked recessive genetic condition where cells are unable to respond to androgen hormones due to a lack of androgen receptors. It is caused by a mutation in the androgen receptor gene on the X chromosome. Excess androgens are converted into oestrogen resulting in a female phenotype of someone who is genetically male.

Answer 525

Buccal smear or chromosomal analysis to reveal 46XY genotype. Hormonal tests: Raised LH Normal or raised FSH Normal or raised testosterone levels (for a male) Raised oestrogen levels (for a male)

Answer 526

May be partial or complete: If complete - - 'primary amenorrhoea' - little or no axillary and pubic hair - undescended testes causing groin swellings - breast development may occur as a result of the conversion of testosterone to oestradiol Partial - more ambiguous micropenis or clitoromegaly bifid scrotum hypospadias diminished male characteristics It often presents with inguinal hernias containing testes in infancy

Answer 527

Child often raised as female Bilateral orchidectomy (removal of the testes) to avoid testicular tumours Oestrogen therapy Vaginal dilators or vaginal surgery can be used to create an adequate vaginal length Psychological support

Answer 528

GH produced by the anterior pituitary. Also stimulates insulin like growth factor 1. Important for growth Congenital: Disruption of growth hormone axis (P+HyP)- genetic (GH1 or GHRH receptor genes) or pituitary damage (empty sella syndrome) Acquired: Secondary to infection, trauma, surgery

Answer 529

Birth-neonates: - Micropenis - Hypoglycaemia - Severe jaundice Infants and children: - Poor growth, usually stopping or severely slowing from age 2-3 - Short stature + obesity - Slow development of movement and strength - Delayed puberty

Answer 530

- GH stimulation test: Response to medications (glucagon, insulin, arginine and clonidine) which usually stimulate GH. - Poor response - Associated hormone deficiencies, for example thyroid and adrenal deficiency - MRI brain - pituitary/hypothalamus issues - Genetic testing - associated (Turner syndrome and Prader–Willi syndrome) - Xray (usually of the wrist) or a DEXA scan - determine bone age and predict final height

Answer 531

Daily subcutaneous injections of growth hormone (somatropin) Treatment of other associated hormone deficiencies Close monitoring of height and development

Answer 532

Obesity is defined as BMI over 98th centile, consider investigations for BMI >91st centile. Significant short/long term complications, obese children are likely to become obese adults.

Answer 533

- Lifestyle factors (most common) - associations asian children, female, taller children - Growth hormone deficiency - Hypothyroidism - Down's syndrome - Cushing's syndrome - Prader-Willi syndrome

Answer 534

- Treat any underlying cause - Lifestyle treatment/modification - Motivational interviewing, family therapy Consider: Fasting blood glucose, serum lipids, LFTs

Answer 535

- Adult obesity - MSK problems: slipped upper femoral epiphyses, Blount's disease (a development abnormality of the tibia resulting in bowing of the legs), musculoskeletal pains - T2DM, cardiovascular disease, impaired glucose tolerance - Hypertension - PCOS - ENT/Resp - obstructive sleep apnoea, obesity-hypoventilation syndrome, pulmonary hypertension - Psychosocial comorbidity

Answer 536

- Gross motor - Fine motor - Speech, language and hearing - Social/personal

Answer 537

6 weeks: Tracks object/face 3-4 months: Reaches for object, visually alert, fixes and follows 180 degrees 6-7 months: Palmar grasp, hand-hand transfer 9 months: Inferior pincer grip 12 months: Mature pincer grip (10m), casting objects/bricks to floor (abnormal if persists past 18 months). Brick building: Tower of 3-4 (18m), 6-8 (2y), bridge (3y), 12/stairs (4y) Drawing: To/fro or circle (18m), Copies vertical line (2y), copies circle (3y), cross/square (4y), triangle (5y) Book: Looks/pats page (15m), turn several pages at a time (2y), turns one page (3y)

Answer 538

Newborn: Limbs flexed, symmetrical posture. Marked head lag on pulling up 6-8 weeks: Raises head to 45 degrees when prone 6-8 months: Sits without support (round back - 6m, straight back - 8m) 8-9 months: Start crawling, stand up supported 12 months: Should stand, begin cruising or walk unsteadily 13-15 months: Should walk steadily/unsupported (18 months refer) 18 months: Squat and pick things up from floor 2 years: Runs, kicks ball, walks up stairs supported 3 years: Up stairs one step/time, down with 2, ride a tricycle, hops on one foot for 3 steps 4 years: Hop, walk up and down stairs like adult

Answer 539

Newborn: Startles to loud noises 3-4 months: vocalises alone, coos 6 months: turns to noises, understand bye bye, double/polysyllabic (7m) 7-10 months: Mama/Dada (9m), responds to name 12 months: 2 or 3 words other than mama/dada 18 months: Knows 6-10 words, understands simple instructions (nouns), shows body parts 2y: Understands verbs, combines two words or simple phrases. Understands propositions/vocab 200 words (2.5y) 3y: Understands negatives + adjectives, basic sentences 4y: Understands complex instructions, complex stories/descriptions

Answer 540

6 weeks: Smiles (red flag - 8-10 weeks) 6 months: Puts food to mouth, not shy 10-12 months: waves bye, plays peek-a-boo, shy (stranger fear 6-9m-2y), claps hand 18 months: can use spoon well, imitates 2y: Plays near other children, symbolic play, dry by day/toilet training 3y: Plays with other children, bowel control, uses fork 4y: concern for others, has best friend, can dress/undress (not laces or buttons), imaginative play

Answer 541

Lost developmental milestones (regression) Hand preference <12 months Not able to hold an object at 5 months Not sitting unsupported at 12 months Not standing independently at 18 months Not walking independently at 2 years Not running at 2.5 years No words at 18 months No interest in others at 18 months

Answer 542

Down’s syndrome Fragile X syndrome Fetal alcohol syndrome Rett syndrome Metabolic disorders

Answer 543

Cerebral palsy Ataxia Myopathy Spina bifida Visual impairment

Answer 544

Dyspraxia Cerebral palsy Muscular dystrophy Visual impairment Congenital ataxia (rare)

Answer 545

Specific social circumstances, for example exposure to multiple languages or siblings that do all the talking Hearing impairment Learning disability Neglect Autism Cerebral palsy

Answer 546

Emotional and social neglect Parenting issues Autism

Answer 547

A type of seizure that occurs when a child has a high temperature. Not caused by epilepsy or underlying medical condition (meningitis, tumour). Occur between 6 months-5 years. Typically tonic-clonic in nature.

Answer 548

Often triggered by infection - often early in viral infection as temp rises rapidly Genetic predisposition - 10 risk if FHx

Answer 549

Simple: <15 mins, generalised tonic-clonic, only once in a febrile illness, recovery within 1 hour Complex: 15-30 mins, focal/partial seizure, can occur multiple times in one illness Febrile status epilepticus: >30 mins

Answer 550

Rule out other causes: Meningitis/encephalitis, intracranial lesion, trauma Reassurance, antipyretics (not proven to reduce risk), education - seizure first aid Rescue Tx - buccal midazolam or PR diazepam if seizure >5 mins

Answer 551

Rarely cause lasting damage: - Recurrent seizures are common (1/3) - If complex then more likely to develop epilepsy (10-20%)

Answer 552

- Reflex anoxic - Cardiac arrhythmias/syncope - Psychogenic non-epileptic seizures (functional) - Benign sleep myoclonus

Answer 553

Tonic-clonic: Fall to ground, hold breath, tongue-biting (muscle tensing - tonic) Rhythmical jerking, salivation, incontinence, irregular breathing (jerking - clonic) Postictal (drowsy, sleep, irritable/low) - few hours Absence: Blank, stares, lip smacking may occur, brief, unaware Myoclonic: Sudden brief muscle jerks, repetitive. Usually awake during. (Juvenile myoclonic Tonic: Sudden, muscle tensing, fall to ground, immediate LOC Atonic: Sudden collapse, loss of muscle tone, drop attack, <3 mins. May indicate Lennox-Gastaut syndrome.

Answer 554

Chronic neurological disorder characterised by recurrent unprovoked seizures. This is due to abnormal and excessive neuronal activity in the brain.

Answer 555

1. Generalised: discharge from both hemispheres No warning Usually have LOC/impaired Include Tonic-clonic, absence, myoclonic, tonic, atonic 2. Focal: discharge from one part of one hemisphere May have preceding aura May or may not have LOC Include T§emporal, frontal, occipital and parietal

Answer 556

Simple partial (focal aware: Stays localised Preserved consciousness No post-ictal symptoms Complex partial (focal impaired awareness) Commonly arise from temporal lobe Impaired/loss of consciousness Postictal symptoms Localised signs: Temporal lobes - Aura (fear/deja vu), smell/taste/sound distortion, automatisms (lip-smacking/chewing) Frontal - Clonic movements spreading proximally (Jacksonian march) Occipital - vision disturbance Parietal - sensory disturbance, tingling/numbness

Answer 557

Thorough Hx - establish if true epilepsy EEG - diagnosis, severity and classification MRI brain - identify structural cause (e.g. tumours), consider in children <2, focal seizure, no response to Tx Others: ECG, blood electrolytes, BM, cultures/LP etc

Answer 558

- Generalised Tonic-Clonic = 1st line: Sodium Valproate (males) & Lamotrigine or Levetiracetam (females) - Tonic/atonic = Sodium Valproate (males) & Lamotrigine (females) - Myoclonic = Sodium Valproate (males) & Levetiracetam (women) - Absence = 1st line: Ethosuximide 2nd line: Sodium Valproate (male) & Lamotrigine or levetiracetam (female) NB - Carbamazepine may exacerbate absence seizure - Partial (focal) = 1st line: Lamotrigine or Levetiracetam 2nd line: Carbamazepine

Answer 559

Sodium valproate - Teratogenic, weight gain, hair loss, tremor Carbamazepine - Agranulocytosis, aplastic anaemia, rash, ataxia, P450 inducer Lamotrigine - SJS/TEN, insomnia, leukopenia Ethosuximide - N&V, night terrors, rashes

Answer 560

Defined as a seizure activity >5 minutes or repetitive seizures without the patient regaining consciousness in between.

Answer 561

Permanent neurological movement/posture disorder, that is non-progressive and occur in early childhood <2y. There is huge variation in severity.

Answer 562

1. ABCDE - Secure airway, high flow O2, IV access - Check blood glucose 2. Pre hospital (Buccal midazolam or PR diazepam)/Hospital (IV Lorazepam) Repeat at 5-10 mins 3. If persists: Call anaesthetist, IV phenytoin. Also Levetiracetam or SV are 2nd line treatments 4. No response (refractory - 45 mins) - then ICU admission/intubation IV phenobarbital, thiopentone (general anesthetic)

Answer 563

Antenatal (80%): - Maternal/congenital infection - Vascular occlusion (pre-eclampsia, cord prolapse, rhesus disease) - Maldevelopment (genetics, maternal drugs/alcohol) Perinatal (10%): - Hypoxic-ischaemic encephalopathy (birth trauma/asphyxia, breech) - Preterm birth Postnatal (10%): - Meningitis - Metabolic - hypoglycaemia, kernicterus - Head trauma/intraventricular haemorrhage

Answer 564

May present at birth but can be seen in development: Failure to meet milestones Increased or decreased tone Hand preference below 12 months Problems with coordination, speech, walking Feeding or swallowing difficulties Learning difficulties

Answer 565

MDT approach for life: - Physiotherapy - Maximise function, stretch and strengthen muscles - Occupational therapy - Manage ADLs (bathing, dressing etc), adaptations - SALT - speech and swallowing support, may require NG tube if severe - Dieticians - Orthopaedic surgeons - release contractures and lengthen tendons - Medication: Muscle relaxants - Baclofen, botox injections, anti-eplieptic drugs Glycopyrronium bromide/Hyoscine hydrobromide (drooling)

Answer 566

1. Spastic - Hypertonic due to damaged UMN 2. Dyskinetic - Dystonia (twisting - hyper/hypotonia), causes athetosis/chorea, oro-motor problems. Damage in the basal ganglia and substantia nigra 3. Ataxic/hypotonic - Problems with coordination. Broad gait, intention tremor. Damage to cerebellum causing cerebellar signs 4. Mixed

Answer 567

1. Monoplegic - one limb affected 2. Hemiplegic - (4-12 months). Unilateral arm + leg, flexed arm, legs may be extended, closed fist, tip-toe walking 3. Diplegic - All 4 limbs (legs>arms), Hand function may be normal, scissoring gait 4. Quadriplegic - All 4 limbs severely affected. Opisthotonus, poor head control. Associated with seizures, severe intellectual impairment, speech disturbance

Answer 568

- Intellectual impairment/LD - Epilepsy - Kyphoscoliosis - Hearing/visual impairment - GORD

Answer 569

- West syndrome - Tx: prednisolone + vigabatrin, chaotic EEG (hypsarrhythmia). Developmental disorders common - Lennox-Gastaut syndrome - severe, neurodevelopmental problems very common , tonic-clonic (drop attacks) - Juvenile myoclonic - Myoclonic jerks, after waking. Unlikely to remiss - Benign occipital - Visual change/hallucination, eye deviation. Remits in childhood

Answer 570

Numerical: - Down (trisomy 21) - Edward (trisomy 18) - Patau (trisomy 13) - Klinefelter (XXY - 47) - Turner (X - 45) Structural: - DiGeorge (deletion 22q11) - Cri du chat (deletion 5p)

Answer 571

Trisomy 21, usually due chromosomal nondisjunction but rarely due to translocation or mocaisism. The extent varies between people, and it gives characteristic dysmorphic features. Average life expectancy.

Answer 572

- Round face - Flattened face and nose - Brachycephaly (small head with flat occiput) - Protruding tongue - Eyes: upslanting palpebral fissures + epicanthic folds - Single palmar crease - Hypotonia - Brushfield spots in iris

Answer 573

- Congenital heart defects - Hearing impairment (recurrent OM) - Learning difficulties (variable) - Leukaemia - Dementia (early onset Alzheimer's) - Hypothyroidism - Visual problems (cataracts, myopia, strabismus) - Epilepsy, coeliacs, infections - Atlantoaxial instability

Answer 574

Trisomy 18 Features: - IUGR/LBW - Overlapping fingers - Low set ears - Micrognathia (small lower jaw) - Club/rocker bottom feet - Cardiac, resp, renal malformations Most die in infancy

Answer 575

MDT: Occupational therapy SALT Physio Paeds GP Health visitor Cardio Audiologist + ENT Social support/welfare Educational support

Answer 576

Antenatal screening: Optional - Combined test (11-14 weeks gestation): Involves USS for nuchal translucency (>6mm), bHCG (high) and PAPPA (low) - Triple test (14-20 weeks gestation) - bHCG (high), Alpha fetoprotein (low), serum oestriol (low) - Quadruple (14-20 weeks) - Also includes inhibin A (high) Antenatal testing: Offered if high risk Invasive: amniocentesis (>15 weeks) or chorionic villus sampling (<15 weeks) Non-invasive: NIPT, new test gradually replacing invasive. Not definitive.

Answer 577

Trisomy 13 Features: - Microcephaly, small eyes - Cleft palate/lip - Polydactyly - Scalp lesions - Also rocker bottom feet (same in Edwards) Most die in infancy, associated with cardiac, renal malformation

Answer 578

When a female has a single X chromosome (45, X0). Life expectancy is close to normal. 1/2500 prevalence. Most cases result in miscarriage (95%)

Answer 579

Short stature Webbed neck Broad chest with widely spaced nipples High arched palate Cubitus Valgus Underdeveloped ovaries/reduced function Late/incomplete puberty - primary amenorrhea Infertility Fetal/neonatal oedema Cystic hygroma - prenatal testing

Answer 580

Congenital heart defect - bicuspid valve, coarctation of the aorta Delayed puberty Hypothyroidism Renal anomalies - horseshoe kidney Recurrent UTIs Hypertension Diabetes, obesity LDs Osteoporosis

Answer 581

Monitoring of complications, genetic counselling. Growth hormone: to reduce short stature Oestrogen/progesterone replacement - develop secondary sex characteristics and prevent osteoporosis. Still remain infertile, very rarely may have children if IVF (<1%)

Answer 582

When a male has an additional X chromosome (47, XXY). Rarely can have 48, XXXY or 49, XXXXY, these are more severe.

Answer 583

Can appear normal until puberty: - Tall stature - Wide hips/central obesity - Gynecomastia - Small testes/undescended, (micropenis - rare) - Reduced libido - Failure to complete puberty - Shy, expressive speech difficulties - Lack of 2nd sex characteristics (pubic/facial hair) RF - increasing maternal age Ix - Raised gonadotropin but low testosterone, Karyotyping

Answer 584

MDT input - SALT, occupational, physio, educational Testosterone injections Fertility counselling - TESE (testicular sperm extraction) Breast reduction surgery - cosmetic

Answer 585

Life expectancy close to normal. Increased risk of: - Breast cancer compared with other males (but still less than females) - Osteoporosis - Diabetes - Anxiety and depression

Answer 586

- Marfan syndrome - Achondroplasia - Noonan syndrome - Neurofibromatosis - Tuberous sclerosis

Answer 587

Autosomal dominant mutation of fibrillin 1 gene on chromosome 15, which affects connective tissue production.

Answer 588

- Tall stature - Long limbs, neck, fingers (arachnodactyly) - High arch palate - Hypermobility (joints) - Pectus carinatum or excavatum - Scoliosis - Downward sloping palpebral fissures

Answer 589

Heart: Aortic/mitral valve prolapse, aortic dissection, AAA Lungs: Spontaneous pneumothorax Eyes: Glaucoma, cataracts, lens dislocation/retinal detachment

Answer 590

Genetic testing/counselling Education regarding exercise (not maximum) Physiotherapy Strict BP control and HR - BB, ACE inhibitors ECHO and ophthalmology monitoring Fix with surgery

Answer 591

Autosomal dominant condition, caused by a defect in chromosome 12. Features: Similar to Turner's - Short stature - Webbed neck - Hypertelorism (wide eyes) - Low set ears - Broad forehead - Prominent nasolabial folds

Answer 592

- Congenital heart defect: pulmonary stenosis, ASD, hypertrophic cardiomyopathy - Cryptorchidism - Bleeding disorders - Learning disability (mild) - Increased risk of leukemia + NB - Lymphedema - Failure to thrive

Answer 593

Males are affected, females are carriers but may have mild disease. 50% chance son of carrier mother is affected or female carrier All daughters of affected males are carriers Sons of affected males are unaffected Includes Fragile X, DMD, G6PD, Haemophillia

Answer 594

- CF - Phenylketonuria - Sickle cell - Thalassemia - Tay-sachs - Hereditary ataxias (fredrichs, spinocerebellar)

Answer 595

Mutation of fragile X mental retardation 1 gene (FMR1). Features: - Macrocephaly - Intellectual disability - Long, narrow face - Large ears - Large testicles after puberty - Prominent mandible Associated conditions: - Severe LD (mean IQ 50) - Autism - ADHD - Seizures - Mitral valve prolapse

Answer 596

Deletion on chromosome 7, can be de novo. Features: - Short stature - Starburst eyes - Elfin appearance (wide mouth, small chin, long philtrum) - Very sociable, friendly, trusting Associated conditions: - Supravalvular aortic stenosis - ADHD - Hypertension - Hypercalcaemia (neonatal transient) Mx: MDT management, heart monitoring (ECHO), Low calcium diet

Answer 597

Loss of function of UBE3A gene, specifically copy from the mother. Deletion on chromosome 15. Features: - 'Coarse' facial features - Delayed development/LD - Severe delay or impaired speech - Microcephaly - Hand flapping - Wide mouth/teeth - Unusual fascination with water, happy demeanour Associated conditions: - Severe speech impairment - Intellectual impairment - ADHD - Epilepsy - Ataxia Mx - MDT, CAMHS, epilepsy management, physio, occupational health, social care

Answer 598

Loss of function/deletion in proximal arm on chromosome 15 inherited from there father. Caused by microdeletion of paternal 15q11-13 or rarely maternal disomy of chromosome 15 (both from mother). Features: Hypotonia as infant Constant insatiable hunger Hypogonadism/infertility Learning difficulties Thin upper lip, downturned mouth Strabismus Associated conditions: - Poor growth in childhood - Developmental delay - Obesity/T2DM - LD/behavioural problems Mx - MDT, dietician Growth hormone to improve muscle development

Answer 599

An group of autosomal dominant genetic conditions affecting collagen metabolism resulting in brittle bones which are prone to fracture.

Answer 600

Mutations in COL1A1 and COL1A2 primarily (90%) but there are other types. - These genes encode for alpha 1 and alpha 2 chains of type I collagen.

Answer 601

- Recurrent inappropriate fractures (minor trauma) - Short stature - Blue sclera - Deafness in early adulthood (osteosclerosis) - Dental problems (opalescent, brittle) - Chronic joint/bone pain

Answer 602

- Genetic testing - X-ray (assess bone age/fractures) - Audiological evaluation

Answer 603

MDT - dental, hearing, occupational health, paeds, orthopaedics Lifestyle - moderate exercise (avoid contact) Bisphosphonates - increase bone density Vit D supplements Analgesia - for chronic pain (NSAIDs) Hearing aids

Answer 604

A spectrum of congenital structural hip abnormalities where the proximal femoral head and the acetabulum do not articulate correctly. This varies from dysplasia to subluxation to frank dislocation. It is often due to a shallow acetabulum.

Answer 605

Newborn exam (6-8 weeks): - Positive Barlow and Ortolani test (clunking) - Limited hip abduction - Leg symmetry (visual and leg length) Older children: - Limp, shortened leg (galeazzi sign) (Associations - club foot, torticollis)

Answer 606

- Female (6x) - Breech presentation - FHx - Firstborn/multiple pregnancies - Oligohydramnios

Answer 607

Suspected DDH or high risk factors: - USS hip - X-ray - usually in older infants

Answer 608

- Some cases are self-limiting - <6 months: Pavlik harness - keeps hip abducted + flexed, monitored until hip is stable - >6 months: If harness fails or dx after 6 months - surgery with spica cast (immoblised pelvis + femur) Pavlik harness SE - may cause avascular necrosis of the femur

Answer 609

Lateral curvature of the spine. It can be structural or postural (disappears on leaning forward). Causes - Idiopathic (85%), congenital (spina bifida), secondary - CP, MD, marfan's, JIA Px - most often presents in girls during pubertal growth Ix - Clinical exam (differing shoulder height, skin creases), X-ray (if severe) Mx - Mild: Observe, resolves spontaneously Severe: Bracing Very severe: Complications (chest deformity - CR failure) then surgery

Answer 610

Most common cause of dwarfism. A skeletal dysplasia caused by a mutation in FGFR3 on chromosome 4 (autosomal dominant). Inherited or de novo. Features: Short stature (around 4ft) Short limbs and fingers Large head, frontal bossing, foramen magnum stenosis Bow legs Midface dysplasia (flat face/nasal bridge) Associations: Recurrent OM, kyphoscoliosis, spinal stenosis, O sleep apnoea, obesity Mx - MDT, leg lengthening Normal intellect and life expectancy

Answer 611

More severe form of achondroplasia, FGFR3 mutation. Leads to stillbirth.

Answer 612

Autoimmune inflammation causing persistent joint swelling (>6 weeks) presenting <16 years without a defined cause.

Answer 613

Oligoarthritis Polyarticular Systemic Psoriatic Enthesitis-related

Answer 614

- Joint stiffness - Mornings and after rest - Joint pain - Joint swelling

Answer 615

Affects M:F age 1-10y Articular pattern - Oligo/polyarthritis, arthralgia/myalgia Extra-articular: - Salmon pink rash - Lymphadenopathy - Malaise - High swinging fevers Ix - ANA + RF (usually negative) CRP/ESR - raised Anaemia - serum ferritin, FBC High platelets Complications: Macrophage Activation Syndrome (life threatening) - severe inflammation, DIC, anaemia, non-blanching rash, thrombocytopenia. Low ESR.

Answer 616

Affects girls more than boys. Articular pattern: Symmetrical (large/small joints) Marked finger involvement Can involve TMJ or C-spine Extra articular: Minimal systemic effects Low grade fever Anaemia Reduced growth Uveitis Ix - Most are RF -ve, RF +ve (tend to be older, similar to adult RA)

Answer 617

Affects girls more than boys (5:1). Age 1-6y. Articular pattern: 4 or less joints Persistent (Max 4) or extended (>4 after 6m, large/small joints) Extra-articular: - Chronic uveitis (20%) - Asymmetrical growth - Leg length discrepancy Ix - ANA usually positive, RF negative

Answer 618

More common in boys (1:4), 6-16y Articular: - Large joints mainly (lumbar, sacroiliac, lower limbs) Extra articular: - Enthesitis (inflammation at tendon/ligament insertion) - achilles, wrist, ant sup iliac spine, hands/feet - Prone to anterior uveitis Ix - HLA-B27 +ve mostly

Answer 619

Equal F:M, 1-16y Articular: Symmetrical affecting small joints Asymmetrical affecting large joints Dactylitis Extra articular: Psoriasis Chronic anterior uveitis (20%) Nail pitting/onycholysis Enthesitis Ix - seronegative

Answer 620

Paediatric rheumatology/MDT Monitor complications - Physio, opthalmology NSAIDs Steroid injections (1st line oligoarthritis) Systemic corticosteroids (Oral pred/IV hydrocortisone) DMARDs - Methotrexate, sulfasalazine Immunotherapy (anti TNF) - adalimumab, others - secukinumab

Answer 621

Joint erosion/deformity Growth failure Chronic anterior uveitis MAS Atlantoaxial subluxation Osteoporosis SE Tx - immunosuppression, growth suppression

Answer 622

Infection of the joint space, can occur at any age but most commonly <4 years. Medical emergency, can lead to joint destruction and severe systemic illness. 10% mortality

Answer 623

Kocher criteria Bloods: Raised WCC, ESR, CRP Blood culture: positive Joint aspiration/culture - diagnostic X-ray, MRI, USS

Answer 624

- Joint pain (passive movement - non weight bearing) - Fever, lethargy - Swelling, hot, erythema over joint - Stiffness - Joint effusion - Limp

Answer 625

- Staphylococcus aureus is the most common - Group A strep (pyogenes) - neonates - H. influenzae - Neisseria gonorrhoeae (sexually active teens)

Answer 626

- Immunosuppressed - Prosthesis - Recent operation/surgery - Extremes of age - Wounds

Answer 627

Distinguishes risk of septic arthritis from transient synovitis in a child: - fever >38.5 degrees C - non-weight bearing - raised ESR - raised WCC

Answer 628

Sepsis protocol if systemic involvement Immediate empirical IV Abx until cause is known. - Continue Abx for 3-6 weeks (switch to PO after 2) Surgical drainage & lavage if severe (not responding to Abx)

Answer 629

Infection of the bone or bone marrow. Typically occurring in the metaphysis of the long bones. Can be chronic with slow presenting symptoms or more acute. May occur due to exposure after an open fracture (non-haematogenous) or through the blood (haematogenous).

Answer 630

Haematogenous spread is more common in children. - Staphylococcus aureus (most common) - Salmonella spp. (More common in children with sickle cell disease) - Group B strep (infants) - Group A strep (older children)

Answer 631

- Limp/refusal to weight bear - Fever - Pain, tenderness, warmth, erythema over bone - Malaise/fatigue 15% have co-existing septic arthritis

Answer 632

X-ray MRI (diagnostic) Bloods (raised WCC, ESR, CRP) Blood culture or bone marrow aspiration/biopsy + culture

Answer 633

Immediate IV Abx - Flucloxacillin in adults 2nd gen cephalosporins in children (cefuroxime, cefazolin) Continue ABx for 4 weeks (switch to oral when child is well) Supportive - analgesia, bedrest Surgical decompression/aspiration - if severe/no response or periosteal abscess

Answer 634

Bone/cartilage necrosis Chronic/recurrent infection Limb deformity/amputation/growth issues

Answer 635

Acute: - Infection (OM/SA) - Transient synovitis - Trauma/overuse - Malignancy - Slipped capital femoral epiphysis - RA/JIA Chronic: - Congenital (DDH, clubfoot) - Tarsal coalition - Neuromuscular (CP, DMD) - JIA - Perthes disease - Slipped capital femoral epiphysis

Answer 636

It is the most common cause of acute hip pain in a child (age 3-10). Caused by temporary irritation/inflammation in the synovial membrane of the joint. It is often associated with a recent viral infection (mainly URT).

Answer 637

Pain on movement (not rest) - mostly unilateral, can radiate to groin or knee Limp Refusal to weight bear Mild low grade temperature Child should be systemically well (if not think SA)

Answer 638

Child under 3 years Waking at night with pain (malignancy) Weight loss, Anorexia, Fever, Night sweats, Fatigue (suggest malignancy or infection) Persistent pain Stiffness in the morning (JIA) Swollen or red joint (infection/JIA)

Answer 639

Rule out other serious pathology: - WCC = normal/slightly raised - Culture = negative - ESR/CRP = normal/slightly raised - X-ray = normal Positive log roll test in affected joint

Answer 640

- Occurs in children aged 4-12 (mainly between 4-8y) - Affects boys 5x more than girls

Answer 641

Self-limiting (improves in 1-2 weeks, may recur) - Supportive: Bed rest, analgesia (NSAID, paracetamol) - Safety net: Fever, unwell, worsen

Answer 642

Is the interruption of blood flow to the femoral head causing avascular necrosis. The disease is characterised by continued necrosis, then revascularisation and remodelling of the bone.

Answer 643

Pain in the hip or groin (90% unilateral) Limp Limited hip ROM Referred pain to the knee (obturator nerve) No history of trauma +ve Trendelenburg's test

Answer 644

Bilateral hip X-ray: AP and frog lateral views (crescent sign) Bloods: Normal Technetium bone scan or MRI

Answer 645

Aim to maintain a healthy alignment of the hip and femur Young and mild disease (6y): (supportive) Bed rest, traction, crutches, analgesia Physiotherapy Regular X-ray - assess healing Severe disease/not healing - Surgery - to help realign (e.g. osteotomy - reshape)

Answer 646

Stiffness/loss of rotation Premature fusion of growth plate (limb length discrepancy) Osteoarthritis Poor prognostic factors: - >5y - >50% epiphysis involved - deformed femoral head

Answer 647

Rare condition where the head of the femur is displaced along the growth plate. It most commonly affects obese children, especially boys. Presents typically between 10-15 years.

Answer 648

Typical case is an adolescent obese male undergoing a growth spurt: - Hip, groin, thigh or knee pain (often bilateral) - Hx of minor trauma - Restricted hip ROM (abduction and internal rotation of the hip) - Patient refers to keep hip externally rotated (gait and rest)

Answer 649

- Hip X-ray: AP and frog lateral view is diagnostic (lost kleines line Bloods - rule out CT/MRI technetium bone scan

Answer 650

Surgery - required to return femoral head to correct position and fix it (screw). Complications: - Avascular necrosis of femoral head - Osteoarthritis - Chondrolysis (loss of articular cartilage) - Leg length discrepancy/deformity

Answer 651

- Adolescent male - Obesity - Hypothyroidism and other endocrine disorders (hypogonadism)

Answer 652

Overuse syndrome characterised by inflammation of the tibial tuberosity where the patellar tendon inserts. It is a common cause of anterior knee pain in adolescents, and is typically unilateral (can be bilateral).

Answer 653

Recurrent stress (running, jumping etc) causes inflammation of the tibial epiphyseal plate and avulsion fractures of the apophysis (where the patellar attaches it pulls away the bone). This causes growth of the tibial tuberosity leading to a visible lump below the knee which is initially tender but becomes hard and non-tender over time.

Answer 654

- Visible or palpable hard and tender lump at the tibial tuberosity - Pain in the anterior aspect of the knee - Pain is exacerbated by physical activity, kneeling and on extension of the knee Clinical diagnosis but X-ray may show enlarged tibial tubercle.

Answer 655

Supportive: Analgesia - NSAIDs Ice/compression Reduced activity Once settled start physio - symptoms will fully resolve over time but lump may still be present Surgery if symptoms persist

Answer 656

Avulsion fracture - where the tibial tuberosity is separated from the rest of the tibia (rare) Requires surgery

Answer 657

Defective bone mineralisation in developing/growing bones which causes soft, easily deformed bones. In adults (osteomalacia). It is usually caused by a vitamin d or calcium deficiency.

Answer 658

Vitamin D function: - Calcium and phosphate absorption from the intestines and kidneys - Regulating bone turnover - Promoting bone reabsorption - to increase serum calcium Inadequate vit d leads to low Ca and P in the blood (essential for bone formation) Low Ca also causes a secondary hyperparathyroidism which increases bone reabsorption.

Answer 659

Prolonged breastfeeding (low calcium) Lack of sunlight Darker skin FHx

Answer 660

Bone pain Poor growth Muscle weakness Tetany, spasm, paresthesia (hypocalcaemia) Dental problems- underdeveloped enamel Bone deformity Bone deformity: - Bow legs (toddlers) - Knocked knees (older children) - Rachitic rosary - lumps on chest (costochondral junction swelling) - Craniotabes - soft skull (frontal bossing)

Answer 661

Serum 25-hydroxyvitamin D - <25 nmol/L X-ray - diagnosis (epiphyseal widening, osteopenia) Serum calcium, phosphate - may be low alkaline phosphatase - may be high Serum PTH - may be high

Answer 662

Prevention - Breastfeeding mothers should take vit d Children/young people recommended 400IU (10mcg) a day. Calcium and vitamin D supplementation to treat rickets (ergocalciferol or colecalciferol)

Answer 663

Disorder of prematurity where a part of the bowel becomes necrotic. This can lead to perforation of the bowel causing shock. It is a life threatening emergency. Causes/RFs: - VLBW/LBW - Formula fed - Sepsis - Resp distress/ventilation/hypoxia - CHD Sx: Intolerance to feeds Vomiting, particularly with green bile Generally unwell Distended, tender abdomen Absent bowel sounds Blood in stools

Answer 664

Bloods: FBC - low platelets and neutrophils CRP - raised CBG - metabolic acidosis Culture - sepsis Abdominal Xray: Supine/lateral/decubitus - Dilated bowel loops - Bowel wall oedema - Pneumatosis intestinalis (gas in bowel wall) - Pneumoperitoneum (free gas, indicates perforation) - Gas in portal veins

Answer 665

Nil by mouth IV fluids Total parenteral nutrition Antibiotics Immediate surgery

Answer 666

Perforation and peritonitis Sepsis Death Strictures Abscess formation Recurrence Long term stoma Short bowel syndrome after surgery

Answer 667

Visceral malformation where there are protrusions of the bowel contents through the umbilicus. Contents are covered in an amniotic sac (membrane and peritoneum) Associated with beckwith-wiedemann, trisomy 13,18,21, renal/cardiac malformations Mx - Caesarean to avoid sac rupture, staged surgical repair

Answer 668

Protrusions of the bowel through the abdominal wall just lateral to the umbilicus. There is no covering of bowel contents. RFs: Maternal drugs, smoking, illness, younger maternal age Mx: Immediate surgical repair with 4h of birth

Answer 669

HIE or birth asphyxia is a type of oxygen deprivation that occurs in labour which can lead to neurodevelopmental diabillity/CP. Some ischaemia is normal in pregnancy however if severe HIE can lead to death.

Answer 670

Maternal shock Intrapartum haemorrhage Prolapsed cord - causing compression during birth Nuchal cord - when the cord is wrapped around the neck Placental abruption Failed cardiorespiratory adaptation - prolonged arrest

Answer 671

Sarnat staging - within 24-48 hours of birth Mild: Poor, feeding, irritable, hyper-alert. Resolves after 24 hours Normal prognosis Moderate: Poor feeding, hypotonic, seizures and lethargic Can take weeks to resolve 40% develop cerebral palsy Severe: Reduced consciousness, apnoea, flaccid, reduced/absent reflexes, Up to 50% mortality 90% develop cerebral palsy

Answer 672

Coordinated by a neonatologist. Supportive care - optimise ventilation, circulation, nutrition, acid-base balance and seizure treatment Therapeutic hypothermia - Cooling core body temperature strictly between 33-34℃ for 72 hours. The baby is then gradually warmed back to normal over 6 hours. Reduces risk of CP, developmental delay, blindness, disability. Follow up with a paediatrician and MDT - to manage any developmental delay, disability etc

Answer 673

A congenital disorder where the oesophageus does not develop properly. It is often accompanied by a tracheo-oesophageal fistula. It is associated with VACTERL and polyhydramnios. Sx: Persistent salivation/drooling, aspiration/choking on feed, cyanosis Surgical repair is needed

Answer 674

A group of associated congenital abnormalities: - Vertebral (scoliosis, hypoplasia) - Anorectal (imperforate anus) - Cardiac (VSD, ASD, TOF) - Tracheoesophageal (fistula) - Renal (malformation) - Limb (radial aplasia, hypoplastic thumb, polydactyly, syndactyly)

Answer 675

Infection in the first 28 days of life. Significant cause of morbidity and mortality. It can be early onset (first 48-72 hours) or late onset (>72 hours). Presents with non-specific signs and should have a high degree of suspicion.

Answer 676

Congenital obstruction of the intestine, where a segment of the bowel is absent or severely narrowed, most commonly affecting the small intestine (duodenum). It is a cause of bowel obstruction. Sx: Antenatal: Polyhydramnios Post natal: Persistent bilious vomiting, failure to pass meconium, abdo distension X-ray - shows double bubble sign Mx: Nasogastric decompression, surgical correction

Answer 677

2 most common: - Group B streptococcus (common organism found in the vagina) - E.coli - Listeria - Klebsiella - Staphylococcus aureus

Answer 678

- Prematurity/LBW - Prolonged ROM - Previous GBS sepsis in another pregnancy - Maternal fever/sepsis/chorioamnionitis (infection of placenta/amniotic fluid) - Vaginal colonisation of GBS

Answer 679

Non specific: site of infection may cause Sx - Resp distress/apnoea - Variable temperature (fever not reliable) - Tachycardic or bradycardic - Abdo distension/vomiting - Seizures (think meningitis) - Jaundice/pallor/mottled - Failure to feed/gain weight - Fatigue/irritable/crying

Answer 680

Blood/urine culture - urine better in late onset FBC (especially abnormal neutrophils high or low) CRP Glucose LP if sepsis suspected Blood gas

Answer 681

- Confirmed sepsis in mother - Signs of shock - Seizures - Term baby needing mechanical ventilation - Respiratory distress starting more than 4 hours after birth - Presumed sepsis in another baby in a multiple pregnancy

Answer 682

NICE recommend IV benzylpenicillin + gentamicin Other important management: - IV fluids - Fluid and electrolyte balance - Manage hypoglycaemia - Manage metabolic acidosis - Adequate O2 sats

Answer 683

Check CRP at 24 and 48 hours and blood cultures (48-36 hours. If negative blood cultures and latest CRP <10 consider stopping ABx Proven sepsis - continue treatment (usually 10 days)

Answer 684

Congenital infection acquired in utero or during delivery. They include: - Toxoplasmosis - Rubella - CMV (most common in the UK) - Herpes simplex virus - Others (syphilis, VSV, Parvovirus B19, HIV

Answer 685

Toxoplasma gondii (parasite). Primarily spread through cat faeces. Risk is higher in later pregnancy. Features: - Intracranial calcification - Hydrocephalus - Chorioretinitis (inflammation of choroid and retina) Mx - pyrimethamine, sulfadiazine, calcium folinate

Answer 686

German measles. During first 20 weeks of pregnancy (especially <10 weeks gestation). Women planning to get pregnant should have MMR vaccine. If not then after pregnancy as it is a live vaccine. Features: - Congenital deafness - Congenital cataracts and glaucoma - CHD (PDA and pulmonary stenosis) - Learning disability

Answer 687

Spread mainly through infected saliva or urine of asymptomatic children. Most cases of CMV in pregnancy do not cause congenital CMV Features: - Fetal growth restriction/LBW - Hearing loss - Microcephaly - Visual impairment - LD - Seizures/encephalitis

Answer 688

Gram +ve bacteria causing listeriosis. Contracted from unpasteurised dairy products, soft cheese, undercooked poultry. Mother may be asymptomatic or have a flu-like illness. Complications: miscarriage/fetal death, preterm delivery, severe neonatal sepsis or meningitis Avoid high risk foods like blue cheese and practice good food hygiene.

Paediatrics Flashcards

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