Paediatrics 1 Flashcards

Question

What is the difference between wheeze and stridor?

Answer 1

wheeze is an polyphonic (more than one sound) noise heard on expiration stridor is an monophonic high-pitched inspiratory noise

Answer 2

reversible airway obstruction airway hyperresponsiveness inflamed bronchioles mucus hypersecretion

Answer 3

at night and early in the morning due to narrowing of the airways during sleep as a result of changing hormone levels (e.g. cortisol, epinephrine + melatonin)

Answer 4

moderate - give salbutamol acute severe/life-threatening - requires hospital admission, 1st line: salbutamol nebulised with O2 + oral prednisolone, 2nd line: IV salbutamol and aminophylline

Answer 5

start with SABA for symptoms relief step wise approach if symptoms >3 times per week 1: SABA + low does ICS 2: SABA + low dose ICS leukotriene receptor antagonist 3: SABA + paediatric low-dose ICS + LABA specialist care referral if still not improving

Answer 6

SpO2 >92% PEF >33% HR <140bpm RR <40/min Able to talk

Answer 7

SpO2 <92% PEF <33-50% predicted HR >140 bpm (1-5 yrs) HR >125 bpm (5+ years) RR >40/min (1-5 yrs) RR >30/min (5+ yrs) Can't complete sentences in 1 breath Use of accessory neck muscles

Answer 8

SpO2 <92% with one of: PEF <33% Cyanosis Confusion Silent chest Hypotension

Answer 9

a normal pCO2 of 4.8-6 kPa this indicates reduced respiratory effort in asthma because initially there is compensation and hyperventilation causing the pCO2 to decrease but when further air trapping leads to decreased lung compliance and increased work of breathing, the pCO2 will begin to increase.

Answer 10

episodic wheeze resulting from small airways being more susceptible to narrowing and obstruction due to inflammation and aberrant immune responses to viral infection

Answer 11

maternal smoking during +/or after pregnancy premature birth FH of early wheezing males increased viral exposure during childhood

Answer 12

URTI symptoms - cough, coryza, blocked/runny nose, sneezing, sore throat fever lethargy and fatigue poor feeding wheezing sound difficulty breathing/chest tightness

Answer 13

tachypnoea hypoxia wheezing prolonged expiratory phase reduced air entry accessory muscle use/retractions

Answer 14

asthma anaphylaxis foreign body aspiration

Answer 15

same as acute asthma treatment - severity dependent

Answer 16

Lower respiratory tract infection which leads to the blockage of small airways in the lungs

Answer 17

Respiratory syncytial virus is the most common cause Rhinovirus (2nd most common cause) Other causes: adenovirus, parainfluenza virus, influenza virus and human metapneumovirus Coinfection with more than one virus can lead to a more severe illness

Answer 18

premature birth bronchopulmonary dysplasia underlying disease e.g. CF

Answer 19

dry wheezy cough poor feeding increasing breathlessness (serious complication = recurrent apnoea)

Answer 20

Tachypnoea and tachycardia Subcostal and intercostal recession Hyperinflation of the chest Fine end-inspiratory crackles High pitched wheezes - expiratory > inspiratory

Answer 21

apnoea serious unwell-looking child severe respiratory distress e.g. grunting, marked chest recession, or a resp rate over 70 breaths/minute central cyanosis persistent O2 saturation <92% when breathing air

Answer 22

supportive humidified O2 via nasal cannulae/head box apnoea monitoring IV fluids if needed

Answer 23

an inherited autosomal recessive condition affecting mucus glands due to delta F508 mutation in the CFTR gene on chromosome 7

Answer 24

- the defective CFTR gene codes for cyclic AMP-dependent chloride channels - the mutation causes poor chloride secretion across the epithelium leading to production of very thick, sticky mucus which clogs airways/tracts resulting in multiple system involvement

Answer 25

meconium ileus (bowel obstruction which occurs when the first faeces are even thicker and stickier than normal meconium)

Answer 26

→ failure to thrive + steatorrhoea (fatty faeces) → short stature → recurrent chest infections due to S/ aureus + pseudomonas aeruginosa → prolonged neonatal jaundice

Answer 27

s. aureus h. influenzae pseudomonas aeruginosa

Answer 28

→ bronchiectasis → rectal prolapse → nasal polyp → sinusitis

Answer 29

usually detected during new-born screening programmes sweat test (measures Cl- in sweat which is elevated in CF)

Answer 30

interdisciplinary approach to manage symptoms as no definitive cure Respiratory: TWICE DAILY chest physio, multiple courses of antibiotics for recurrent infections GI: pancreatic enzyme replacement, liver transplant and high calorie/fat diet orkambi

Answer 31

Orkambi which can be used in patients who are homozygous with the delta F508 mutation Lumacaftor --> increases the number of CFTR proteins which are transported to the cell surface Ivacaftor --> potentiates opening of the CFTR channel at surface to promote less viscous mucus

Answer 32

inflammation of the middle ear of fewer than 3 weeks duration and is usually secondary to a bacterial infection spreading from the upper respiratory tract via the eustachian tube

Answer 33

young age (peak incidence is in the 1st year of life) male daycare or nursery attendance lack of breast feeding exposure to tobacco smoke and air pollution congenital craniofacial abnormalities including trisomy 21 and cleft palate immunocompromised children

Answer 34

recent onset ear pain - can present as ear pulling or irritability in nonverbal children fever anorexia/poor feeding vomiting/diarrhoea lethargy aural fullness

Answer 35

Red, bulging and tender tympanic membrane Mucopurulent discharge in acute suppurative otitis media

Answer 36

AOM is self-limiting usually lasting 3-7 days and often doesn't require treatment In children who are unwell or at high risk of complications immediate antibiotics (1st line amoxicillin, 2nd line co-amoxiclav) and consideration of hospital admission is needed

Answer 37

acute mastoiditis sensorineural + conductive hearing loss cholesteatoma facial nerve palsy bacterial meningitis neck and intracranial abscesses sigmoid sinus thrombosis

Answer 38

a rare complication of AOM where continued inflammation of the mucosa of the middle ear leads to a mastoid abscess

Answer 39

mastoid pain and tenderness fluctuant erythematous retro-auricular swelling auricle proptosis (abnormal protrusion of the pinna)

Answer 40

also known as otitis media with effusion (OTE), when the middle ear becomes full of fluid, causing hearing loss in that ear

Answer 41

dull tympanic membrane with air bubbles or a visible fluid level, although it can look normal

Answer 42

tiny tubes inserted into the tympanic membrane which allow fluid from the middle ear to drain through the tympanic membrane to the ear canal

Answer 43

to keep the middle ear aerated and prevent the accumulation of fluid in the middle ear

Answer 44

grommets usually fall out within a year following insertion only 1/3 of patients require further grommets to be inserted for persistent glue ear

Answer 45

recurrent AOM chronic otitis media + effusion eustachian tube dysfunction

Answer 46

deafness caused by damage to the inner ear cochlear and 8th cranial nerve usually present at birth

Answer 47

hearing aids cochlear implants

Answer 48

deafness caused by impediment of the sound waves travelling from the outer ear/ear drum or across the ear ossicles most often result of otitis media with effusion

Answer 49

grommets bone conduction hearing aids surgical bone anchored hearing aid middle ear implants

Answer 50

1. Glue ear 2. Ear wax 3. Otitis media 4. Perforated ear drum

Answer 51

any misalignment of the eyes resulting in the retinal image being in non-corresponding areas of both eyes

Answer 52

concomitant (non-paralytic) squints are usually congenital and due to differences in the control of the extra-ocular muscles - severity varies inconmitant (paralytic) squint is usually acquired through damage to the extraocular muscles of their nerves (much rarer)

Answer 53

intermittent closure of one eye reduction of motor skills (in amblyonic children) compensatory head tilt/chin lift refractive error media opacities like cataracts retinal abnormalities e.g. retinoblastoma

Answer 54

diplopia other presentations very depending on cause

Answer 55

gross inspection light reflex tests, including the bruckner test (inspection for a red reflex) cover tests

Answer 56

dependent on cause - correction of refractive errors - eye patching/cycloplegic drops - prisms on glasses lens - surgical alignment - eye exercises - miotic agents - chemodenervation

Answer 57

Ventricular septal defect

Answer 58

Most patients with VSD experience symptoms primarily because of the increased flow of blood through the pulmonary circulation. Since the pressure in the left ventricle is greater than in the right ventricle, the majority of VSDs will be shunting left to right

Answer 59

- left to right shunting, mixing of oxygenated blood with deoxygenated blood - increased pulmonary blood flow --> risk of pulmonary hypertension and untreated acyanotic heart disease can lead to Eisenmenger syndrome - lesions that are above the level of the nipple usually give rise to ejection systolic murmurs while lesions below the level of the nipple typically cause pan systolic murmurs

Answer 60

Very small VSD - minimal flow of blood --> no significant increase in pulmonary blood flow, mostly asymptomatic Moderate-sized VSD - flow of blood through the VSD is great enough to cause a significant increase in blood flow through the pulmonary circulation resulting in the left side of the heart receiving a greater volume of blood → dilatation of the L atrium and ventricle Large VSDs - significant amount of blood flow through VSD → early heart failure and severe pulmonary hypertension, symptoms of cardiac failure are evident after the 1st weeks of life

Answer 61

Maternal diabetes mellitus Maternal rubella infection Alcohol (FAS) Family history of VSD Congenital conditions such as Down’s syndrome, trisomy 18 syndrome, Holt-Oram syndrome Some medications (weak evidence)

Answer 62

Small VSD = mild-no symptoms, systolic murmur is sometimes detected Moderate VSD - excessive sweating, easily fatigable, tachypnoea, Large VSD - similar symptoms to CHF: SOB, difficulty feeding, developmental issues, frequent chest infections

Answer 63

Mitral regurgitation Tricuspid regurgitation Atrial septal defect Patent ductus arteriosus Pulmonary stenosis Tetralogy of Fallot

Answer 64

Small does not require treatment Medical management - increased caloric intake, diuretics, ACE inhibitors, Digoxin Surgical - medium to large defects causing significant symptoms may need surgery to close the defect - procedures include: Surgical repair (open heart surgery under cardiopulmonary bypass) Catheter procedure (uses a mesh device to close the hole) Hybrid approach (small access through left ventricle for mesh closing device)

Answer 65

where the pressure in R ventricle exceeds that of the L ventricle as a result of a significant gradual increase in the pulmonary vascular resistance → shunt reversal which causes decreased systemic O2 sats and cyanosis

Answer 66

patent foramen ovale

Answer 67

Autosomal dominant inheritance Family history of ASD Maternal smoking in 1st trimester Maternal diabetes Maternal rubella Maternal drug use (e.g. cocaine + alcohol)

Answer 68

Tachypnoea Poor weight gain Recurrent chest infections

Answer 69

Soft ejection systolic murmur, best heard over pulmonary valve region Wide, fixed split S2 Diastolic rumble in lower left sternal edge in pts with large ASD

Answer 70

If ASD <5mm, spontaneous closure should occur within 12 months of birth Diuretics may be needed in children with heart failure Surgical closure is the definitive management usually in patients with ASD>1cm - Can be carried out percutaneously or open chest using cardiopulmonary bypass

Answer 71

transthoracic echocardiogram

Answer 72

A syndrome characterised by either or both pulmonary and systemic venous congestion and/or inadequate peripheral oxygen delivery, at rest or during stress, caused by cardiac dysfunction

Answer 73

Primarily caused by obstructed systemic circulation: Hypoplastic left heart syndrome (left heart never fully developed) Critical aortic valve stenosis Severe coarctation of the aorta (severe narrowing) Interruption of the aortic arch

Answer 74

usually result of high pulmonary blood flow: Ventricular septal defect Atrioventricular septal defect Large persistent ductus arteriosus

Answer 75

Eisenmenger syndrome (RHF only) Rheumatic heart disease Cardiomyopathy

Answer 76

Breathlessness sweating Poor feeding Recurrent chest infections

Answer 77

Poor weight gain and faltering growth Tachypnoea Tachycardia Heart murmur, gallop rhythm Enlarged heart Hepatomegaly Cool peripheries

Answer 78

1st line: CXR, ECG GS: Cardiac MRI Blood biomarkers e.g. BNP

Answer 79

Tetralogy of Fallot Transposition of great arteries Truncus arteriosus Total anomalous pulmonary venous connection Tricuspid valve abnormalities Ton of others - hypoplastic left heart, double outlet right ventricle, pulmonary atresia

Answer 80

test used to differentiate cardiac from non-cardiac causes of cyanosis when an infant is given 100% oxygen for 10 mins after which an ABG is taken a pO2 of less than 15kPa indicates cyanotic congenital heart disease

Answer 81

supportive care prostaglandin E1 e.g. alprostadil (used to maintain a patent ductus arteriosus)

Answer 82

Ventricular septal defect Pulmonary stenosis Overriding aorta Right ventricular hypertrophy

Answer 83

Down’s syndrome (40% have form of CHD) DiGeorge syndrome CHARGE syndrome VACTERL association

Answer 84

- The VSD allows blood to flow between the ventricles. - Due to the overriding aorta (where the aortic valve is abnormally far right, above the VSD), when the right ventricle contracts and sends blood upwards the aorta is in the direction of travel of that blood therefore a greater proportion of deoxygenated blood enters the aorta from the right side of the heart. - Stenosis of the pulmonary valve provides greater resistance against the flow of blood from the RV which encourages blood to flow through the VSD and into the aorta rather than taking the normal route into the pulmonary vessels - Therefore the overriding aorta and pulmonary stenosis encourage blood to be shunted from the right heart to the left, causing cyanosis - The increased strain on the right ventricle causes right ventricular hypertrophy, with thickening of the heart muscle - These cardiac abnormalities cause a right to left cardiac shunt which means blood bypasses the child's lungs and is not oxygenated as normal

Answer 85

1st degree family history of Chd Parent with TOF Parent with DiGeorge syndrome Foetal exposure to teratogens in utero (e.g. alcohol, warfarin and trimethadione) Poorly controlled maternal diabetes Maternal intake of retinoic acid Congenital rubella infection Increased maternal age (40+ years old)

Answer 86

TOF with mild pulmonary stenosis (cyanosis usually develops around 1-3 years old) TOF with pulmonary atresia (presents with cyanosis and resp distress within first few weeks of life) TOF with an absent pulmonary valve (most severe --> cyanosis and respiratory distress within the first few hours of life)

Answer 87

central cyanosis clubbing respiratory distress signs on auscultation: thrill, heave, ejection systolic murmur in pulmonary area...

Answer 88

1st line: antenatal screening, clinical examination GS: foetal echocardiogram other: pulse oximetry, ECG, genetic testing, CXR

Answer 89

surgical intervention usually within the first year of life some patients receive a bridging procedure before complete repair of the TOF in some infants, a prostaglandin infusion is given to maintain a patent ductus arteriosus so that blood flow to the pulmonary circulation is maintained

Answer 90

a complication of an unrepaired TOF where there is sudden episode of profound cyanosis and hypoxia - can be fatal

Answer 91

Decrease in O2 sats (e.g. crying, emotional/physical distress) Decrease in systemic vascular resistance (e.g. while playing) Increase in pulmonary vascular resistance Tachycardia Hypovolemia

Answer 92

1 - position the child with their knees at their chest 2 - give oxygen 3 - morphine to decrease resp drive 4 - IV fluids - increase pre-load and so increase volume of blood which flows into the pulmonary vessels 5 - BB’s - relaxes the R ventricle infundibulum and improves the flow of blood to the pulmonary vessels 6 - Phenylephrine infusion - increases systemic vascular resistance 7 - emergency ventricular outflow tract stent or BT shunt 8 - sodium bicarb if there is metabolic acidosis

Answer 93

A systemic inflammatory disorder which arises as a complication following group A strep infection

Answer 94

age (5-15 yr olds) female ethnicity - higher prevalence in indigenous populations in Australia and NZ genetic susceptibility prior or untreated infection with group A strep low socioeconomic status overcrowding and poor housing

Answer 95

In order to establish a diagnosis of RF, there must be: Evidence of recent group A strep infection Positive throat swab Positive rapid strep antigen test Raised strep antibody titre Recent episode of scarlet fever Plus either: 2 major criteria Or 1 major criterion and 2 minor criteria

Answer 96

Polyarthritis Carditis (50% of patients) - could be pancarditis, endocarditis, myocarditis, pericarditis Sydenham's chorea (10% of patients) Erythema marginatum Subcutaneous nodules

Answer 97

polyarthralgia prolonged PR interval on ECG Hx of RF Fever Raised inflamm markers

Answer 98

Joints symptoms (reactive arthritis, juvenile idiopathic arthritis, HSP) Cardiac disease (cardiomyopathy, Kawasaki disease, IE) Chorea (Wilson’s disease, adverse drug reactions) Skin changes (adverse drug reactions, lyme disease/erythema migrans, erythema multiforme)

Answer 99

Bed rest is 1st line treatment even if patient feels well until CRP has returned to normal If suspected active myocarditis limitation of exercise is strongly advised Medical management: Stat dose of IV benzylpenicillin followed by oral penicillin V for at least 10 days High dose aspirin to limit inflam response Acute heart failure requires combination of ACEi’s and diuretics Prophylaxis: After the initial attack the child should be followed up regularly and prophylactic treatment started to reduce the chance of any future attacks

Answer 100

endothelial damage platelet adhesion microbial adherence

Answer 101

staph aureus strep viridans strep pneumoniae

Answer 102

Persistent low-grade fever without clear cause Heart murmur Splenomegaly Can also present in a non-acute or subacute form with non-specific symptoms like fatigue, malaise, weight loss, myalgia or even asymptomatic

Answer 103

Petechiae Osler’s nodes Janeway lesions Splinter haemorrhages

Answer 104

echocardiogram

Answer 105

a rapid heart rate of between 250-300bpm caused by premature activation of the atrium via an accessory pathway resulting in a circuit of conduction

Answer 106

sinus rhythm is restored by: - Circulatory and respiratory support - Vagal stimulation manoeuvres - Intravenous adenosine (treatment of choice) - Electrical cardioversion following this maintenance therapy is required with flecainide or sotalol

Answer 107

all children with symptoms require insertion of an endocardial pacemaker

Answer 108

usually related to the presence of anti-Ro or anti-La antibodies in the maternal serum - this antibody appears to prevent normal development of the electrical conduction system in the developing heart, with atrophy and fibrosis of the AV node - the mother will either have manifest or latent connective tissue disorders

Answer 109

foetal hydrops death in utero neonatal heart failure

Answer 110

a channelopathy caused by autosomal dominant gene mutations which results in abnormalities of the sodium, potassium, or calcium channels leading to a gain or loss of function

Answer 111

erythromycin therapy, electrolyte disorders and head injury

Answer 112

sudden loss of consciousness during exercise, stress or emotion

Answer 113

ductus venosus - connects the umbilical vein to the IVC so that blood bypasses the liver foramen ovale - connects the right atrium with the left atrium allowing blood to bypass the right ventricle and pulmonary circulation ductus arteriosus - connects the pulmonary artery with the aorta so blood bypasses the pulmonary circulation

Answer 114

1. At the first breath the alveoli expand decreasing the pulmonary vascular resistance - this causes a fall in pressure in the right atrium so that the left atrial pressure > the right atrial pressure - this squashes the atrial septum causing CLOSURE OF THE FORAMEN OVALE which becomes the fossa ovalis 2. Prostaglandins are required to keep the ductus arteriosus open. - increased blood oxygenation causes a drop in circulating prostaglandins which causes CLOSURE OF THE DUCTUS ARTERIOSUS which becomes the ligamentum arteriosum 3. Immediately after birth the ductus venosus stops functioning because the umbilical cord is clamped and there is no flow in the umbilical veins - the DUCTUS VENOSUM structurally CLOSES a few days later and becomes the ligamentum venosum

Answer 115

very common in children caused by fast blood flow through various areas of the heart during systole

Answer 116

Soft Short Systolic Symptomless Situation dependent

Answer 117

gastroenteritis IBD lactose intolerance coeliac disease cystic fibrosis toddler's diarrhoea IBS medications (e.g. antibiotics)

Answer 118

machinery murmur at the upper left sternal edge

Answer 119

most common: cow's milk intolerance toddler's diarrhoea coeliac disease post-gastroenteritis lactose intolerance

Answer 120

mitral regurgitation (heard at the 5th intercostal space, mid-clavicular line) tricuspid regurgitation (heard at the 5th intercostal space, left sternal border) ventricular septal defect (heard at the left lower sternal border)

Answer 121

aortic stenosis (heard at the 2nd intercostal space, right sternal border) pulmonary stenosis (heard at the 2nd intercostal space, left sternal border) hypertrophic obstructive cardiomyopathy (heard at the 4th intercostal space on the left sternal border)

Answer 122

a delay between the aortic and pulmonary valves closing - this occurs normally with inspiration in children as the chest wall and diaphragm pull the heart and lungs open and cause the right side of the heart to fill faster as it pulls in blood from the venous system - the increased volume in the right ventricle causes it to take longer for the right ventricle to empty during systole, causing a delay in the pulmonary valve closing

Answer 123

mid-systolic crescendo-decrescendo murmur which is loudest at the upper left sternal border with a fixed split second heart sound

Answer 124

small PDAs may not cause any abnormal heart sounds more significant PDAs cause a normal 1st heart sound with a continuous crescendo-decrescendo "machinery" murmur that may continue during the second heart sound

Answer 125

ejection systolic murmur due to pulmonary stenosis

Answer 126

Gastro-oesophageal reflux disease where there is involuntary passage of gastric contents into the oesophagus which is non-self-limiting

Answer 127

inappropriate relaxation of the lower oesophageal sphincter as a result of functional immaturity it is common within the first year of life but almost all symptomatic reflux resolves spontaneously by 12 months of age this is most likely due to a combination of maturation of the lower oesophageal sphincter, assumption of an upright posture and more solids in the diet.

Answer 128

cerebral palsy neurodevelopmental disorders preterm infants, especially those with bronchopulmonary dysplasia surgery for oesophageal atresia or diaphragmatic hernia

Answer 129

Recurrent regurgitation and vomiting Oesophagitis Recurrent pulmonary aspiration Apparent life-threatening events Chronic cough Hoarse cry

Answer 130

poor weight gain distress, crying or unsettled after feeding faltering growth from severe vomiting dystonic neck posturing (Sandifer's syndrome)

Answer 131

Feed thickening Acid suppression with either hydrogen receptor antagonists (e.g. ranitidine) or PPIs (omeprazole) Surgical management is reserved for children complications unresponsive to intensive medical treatment for esophageal stricture (Nissen fundoplication = fundus of the stomach is wrapped around the intra-abdominal oesophagus)

Answer 132

hypertrophy and consequent narrowing of the gastric pylorus

Answer 133

The muscles of the gastric pylorus are abnormally thickened causing narrowing and prevention of food travelling from the stomach to the duodenum as normal. after feeding there is increasingly powerful peristalsis in the stomach as it tries to push food into the duodenum. Eventually it becomes so powerful that it ejects the food into the oesophagus and out of the mouth i.e. projectile vomiting.

Answer 134

Projectile, non-bilious vomiting Increased hunger Thin, pale and generally failing to thrive

Answer 135

visible gastric peristalsis palpable abdominal mass on test feed

Answer 136

Clinical examination, Blood gas analysis (indicates hypochloremic metabolic alkalosis due to vomiting of hydrochloric acid from the stomach) Abdominal ultrasound (GS)

Answer 137

IV fluids to correct any fluid/electrolyte imbalances Laparoscopic pyloromyotomy (Ramstedt’s operation)

Answer 138

Inflammation from the stomach to the intestines which presents with nausea, vomiting and diarrhoea

Answer 139

Most commonly viral cause: rotavirus, norovirus (highly contagious) Bacterial causes: E. coli, Campylobacter jejuni, shigella, salmonella

Answer 140

Extremely contagious so strict infection control and barrier nursing are key in hospital management Fluid challenge Antidiarrheals like loperamide Antiemetic medications like metoclopramide Antibiotics should only be given in patients who are at risk of complications once the causative organism is confirmed

Answer 141

lactose intolerance, IBS, reactive arthritis, GBS

Answer 142

The infrequent passage of dry, hardened faeces often accompanied by straining or pain and bleeding associated with hard stools. Can also be associated with abdominal pain, which comes and goes with passage of stool or overflow soiling.

Answer 143

Habitually not opening bowels Low fibre diet Poor fluid intake and dehydration Sedentary lifestyle Psychosocial problems such as difficult home or school environment

Answer 144

Hirschsprung disease, lower spinal cord problems, anorectal abnormalities, hypothyroidism, coeliac disease and hypercalcaemia

Answer 145

Correct any reversible contributing factors, recommend a high fibre diet and good hydration Start laxatives (movicol is first line) Faecal impaction may require a disimpaction regimen with high doses of laxatives at first Toilet training/encouragement. This could involve scheduling visits, a bowel diary and star charts.

Answer 146

failure to pass meconium within first 24 hrs of life (Hirschsprung’s disease) gross abdominal distension, abnormal lower limb neurology or deformity Sacral dimple above natal cleft, over the spine Abnormal appearance/position/patency of anus

Answer 147

Abdominal pain (typically central abdominal pain which moves down to the right iliac fossa and then becomes localised there) Loss of appetite Nausea + vomiting Rovsing’s sign Guarding on abdominal palpation Rebound tenderness Percussion tenderness

Answer 148

Clinical presentation, CT scan Diagnostic laparoscopy (can be progressed to appendectomy)

Answer 149

Ectopic pregnancy Ovarian cysts Meckel’s diverticulum Mesenteric adenitis Appendix mass

Answer 150

The invagination of the proximal bowel into a distal segment. Most commonly involves ileum passing into the caecum through the ileocaecal valve It is the most common cause of intestinal obstruction in infants after the neonatal period

Answer 151

3months - 2 years

Answer 152

Concurrent viral illness Henoch-Schonlein purpura Cystic fibrosis Intestinal polyps Meckel diverticulum

Answer 153

paroxysmal , severe colicky pain with pallor Refusal of feeds Vomiting Sausage shaped mass which may be palpable in the abdomen Red-currant jelly stool comprising blood stained mucus Abdominal distension and shock

Answer 154

Abdo XR GS: Abdo USS or contrast enema

Answer 155

Iv fluid resuscitation is likely to be required Reduction is attempted by rectal air insufflation unless peritonitis is present Surgery is required if reduction with air is unsuccessful or for peritonitis

Answer 156

stretching and constriction of the mesentery resulting in venous obstruction causing engorgement and bleeding from the bowel mucosa, fluid loss and bowel perforation, peritonitis and gut necrosis

Answer 157

An autoimmune condition where exposure to gluten causes an immune reaction which creates inflammation in the small intestine Usually develops in early childhood but can start at any age

Answer 158

The 2 main antibodies are anti-tissue transglutaminase (anti-TTG) and anti-endomysial (anti-EMA)

Answer 159

In coeliac disease autoantibodies are created in response to exposure to gluten These autoantibodies target the epithelial cells of the intestine and lead to inflammation Inflammation affects the small bowel, particularly the jejunum. It causes atrophy of the intestinal villi. The intestinal cells have villi on them that help with absorbing nutrients from the food passing through the intestine. The inflammation causes malabsorption of nutrients and disease related symptoms.

Answer 160

Type 1 diabetes Thyroid disease Autoimmune hepatitis Primary biliary cirrhosis Primary sclerosing cholangitis Down’s syndrome

Answer 161

Failure to thrive (young children) Diarrhoea Fatigue Weight loss Mouth ulcers Anaemia secondary to iron, B12 or folate deficiency

Answer 162

Investigations must be carried out whilst the patient remains on a diet containing gluten otherwise it may not be possible to detect the antibodies or bowel inflammation Check total immunoglobulin A levels to exclude IgA deficiency Check anti-TTG and anti-endomysial antibodies GS: Endoscopy and intestinal biopsy (show crypt hypertrophy and villous atrophy)

Answer 163

lifelong gluten free diet disease monitoring

Answer 164

Vitamin deficiency Anaemia Osteoporosis Ulcerative jejunitis Enteropathy-associated T-cell lymphoma (EATL) of the intestine Non-Hodgkin lymphoma (NHL) Small bowel adenocarcinoma (rare)

Answer 165

poor physical growth and development in a child

Answer 166

the failure to gain adequate weight or achieve adequate growth during infancy and childhood. weight that has fallen down 2 centile lines

Answer 167

One or more centile spaces if their birth weight was below the 9th centile Two or more centile spaces if their birth weight was between the 9th and 91st centile Three or more centile spaces if their birth weight was above the 91st centile

Answer 168

Inadequate nutritional intake Difficulty feeding Malabsorption Increased energy requirements Inability to process nutrition

Answer 169

Maternal malabsorption if breastfeeding Iron deficiency anaemia Neglect Availability of food (i.e. poverty)

Answer 170

Cystic fibrosis Coeliac disease Cows milk intolerance Chronic diarrhoea Inflammatory bowel disease

Answer 171

Hyperthyroidism Chronic disease, for example congenital heart disease and cystic fibrosis Malignancy Chronic infections e.g. HIV or immunodeficiency

Answer 172

Urine dipstick for UTI Coeliac screen

Answer 173

Encourage regular structured mealtimes and snacks Reduce milk consumption to improve appetite for other foods Review by a dietician Additional energy dense foods to boost calories Nutritional supplements drinks

Answer 174

the cellular imbalance between the supply of nutrients and energy and the body’s demand for them to ensure growth, maintenance, and specific functions.

Answer 175

because of their dependence on others for food, increased protein and energy requirements, immature immune systems causing a greater susceptibility to infection, and exposure to unhygienic conditions

Answer 176

Protein-energy malnutrition - a group of related disorders which include marasmus, kwashiorkor and intermediate states of marasmus-kwashiorkor

Answer 177

a PEM disorder characterised by nutritional oedema and metabolic disturbances, including hypoalbuminemia and hepatic steatosis

Answer 178

peripheral pitting oedema, “moon facies”, hepatomegaly, pursed mouth

Answer 179

adequate carbohydrate consumption and reduced protein intake in kwashiorkor which leads to decreased synthesis of important proteins The resulting hypoalbuminaemia contributes to extravascular fluid accumulation Impaired synthesis of B-lipoprotein produces a fatty liver Diarrhoea and psychomotor changes are also seen Skin becomes dark, dry and splits open when stretched (enamel paint skin)

Answer 180

= an adaptive response to starvation characterised by severe wasting

Answer 181

low weight-for-height and have a reduced mid-upper arm circumference, as well as a head which appears large relative to the rest of their body, also dry skin, thin hair, irritability

Answer 182

Occurs when there is an insufficient energy intake to match the body’s requirements This results in the body using its own stores which results in emaciation “Monkey facies” as a result of loss of buccal fat pads The skin is xerotic, wrinkled and loose Fine, brittle hair, alopecia, impaired growth, nail fissuring

Answer 183

Priority is correcting fluid and electrolyte imbalances and treatment of any infections Macronutrient repletion should be commenced within 48 hrs Topical zinc paste can be used to heal areas of skin breakdown in kwashiorkor Dietary therapy

Answer 184

A congenital condition where nerve cells of the myenteric plexus are absent in the distal bowel and rectum

Answer 185

the absence of parasympathetic ganglion cells which results in inability of the aganglionic section to relax so it becomes constricted and movement of faeces is lost → bowel obstruction

Answer 186

Downs syndrome Neurofibromatosis Waardenburg syndrome Multiple endocrine neoplasia type II

Answer 187

Variable presentation Delay in passing meconium (more than 24hrs) Chronic constipation since birth Abdo pain and distension Vomiting Poor weight gain and failure to thrive

Answer 188

Abdominal x-ray GS: Rectal biopsy

Answer 189

Unwell children + those with enterocolitis will require fluid resuscitation and management of intestinal obstruction IV antibiotics are required in HAEC Definitive management is by surgical removal of the aganglionic section of the bowel

Answer 190

A congenital condition where a section of the bile duct is either narrowed or absent. This results in cholestasis, where the bile cannot be transported from the liver to the bowel. Conjugated bilirubin is excreted into the bile, therefore biliary atresia prevents the excretion of conjugated bilirubin.

Answer 191

Significant persistent jaundice shortly after birth (high conjugated bilirubin levels) Pale stools and dark urine Pruritus Normal birth weight followed by faltering growth Hepatomegaly is often present initially Splenomegaly develops due to portal hypertension

Answer 192

Unconjugated and conjugated bilirubin, fasting abdo USS GS: ERCP Liver biopsy

Answer 193

Kasai portoenterostomy is the only treatment for biliary atresia and involves attaching a section of the small intestine to the opening of the liver where the bile duct normally attaches. This is somewhat successful and can clear the jaundice and prolong survival however the disease progresses in most children who may develop cholangitis and cirrhosis with portal hypertension. Nutrition and fat-soluble vitamin supplementation is essential Definitive treatment is a full liver transplant

Answer 194

Congenital cystic dilatations of the extrahepatic biliary system

Answer 195

Neonatal jaundice and acholic stools In older children: abdo pain, RUQ palpable mass, jaundice or cholangitis

Answer 196

FBC, LFTs, amylase and lipase, serum chemistry GS: Abdo USS/MRCP

Answer 197

Surgical excision of the cyst with the formation of a Roux-en-Y anastomosis to the biliary duct

Answer 198

- food poisoning/gastroenteritis - stress - irregular eating or abnormal diet - certain medications - interaction between the brain and gut

Answer 199

Family history physical /sexual abuse PTSD

Answer 200

Non-specific abdominal pain (often periumbilical and may be relieved by defecation) Explosive, loose, or mucousy stools Bloating Feeling of incomplete defecation Constipation (often alternating with normal or loose stools)

Answer 201

Conservative = patient/parent education (diet changes) + reassurance Moderate = IBS-C → laxatives (e.g. senna), IBS-D → antimotility drug (loperamide) Severe = TCA (tricyclic antidepressants e.g. amitriptyline) + consider CBT/GI referral

Answer 202

Transmural (all 4 layers) autoimmune inflammation affecting the whole GI tract, especially terminal ileum + proximal colon (usually rectum spared). Associated with skip lesions on endoscopy

Answer 203

Abdominal pain Diarrhoea Weight loss Fever Lethargy

Answer 204

pANCA -ve (may be ASCA +ve) Faecal calprotectin ↑ Biopsy = transmural inflammation with non-caseating granulomas Endoscopy - skip lesions, cobblestoned appearance of GI tract, string sign (narrowing of GI tract)

Answer 205

nutritional therapy to induce remission (whole protein modular feeds for 6-8 weeks) systemic steroids if nutritional therapy ineffective immunosuppressant medications e.g. azathioprine, mercaptopurine or methtrexate to maintain remission Anti-tumour necrosis factor agents (infliximab or adalimumab) when no response to conventional treatments surgery can be indicated for complications like obstructions, fistulae, abscesses

Answer 206

recurrent, inflammatory and ulcerating disease involving the colonic mucosa

Answer 207

HLAB27 and pANCA

Answer 208

rectal bleeding diarrhoea colicky pain

Answer 209

weight loss growth failure uveitis/episcleritis erythema nodosum arthritis

Answer 210

pANCA +ve Faecal calprotectin ↑ (non-specific) Biopsy = mucosal inflammation with crypt hyperplasia Colonoscopy = continuous, “lead pipe” sign (loss of haustrations)

Answer 211

Severity of flares are assessed by Trueglove + Witts scoring (mild/moderate/severe)

Answer 212

Aminosalicylates (e.g. mesalazine) are used for induction and maintenance therapy Disease confined to the rectum and sigmoid colon (rare in children) may be managed with topical steroids More aggressive or extensive disease requires systemic steroids for acute exacerbations and immunomodulatory therapy e.g. azathioprine alone to maintain remission or in combination with low-dose corticosteroid therapy Biologics may be used in therapy resistant disease Colectomy with an ileostomy or ileorectal pouch is undertaken for severe fulminating disease, which may be complicated by a toxic megacolon, or for chronic poorly controlled disease

Answer 213

an ileal remnant of the vitello-intestinal duct which contains ectopic gastric mucosa or pancreatic tissue

Answer 214

severe rectal bleeding with an acute reduction in haemoglobin intussusception volvulus diverticulitis

Answer 215

Technetium scan will demonstrate increased uptake by ectopic gastric mucosa in 70% of cases

Answer 216

surgical resection

Answer 217

chronic nonspecific diarrhoea with 3+ loose watery stools per day Child is otherwise well and usually resolves on its own

Answer 218

paroxysmal, inconsolable crying or screaming often accompanied by drawing up of the knees and passage of excessive flatus several times a day

Answer 219

parental reassurance and support but no medical treatments needed

Answer 220

first few weeks of life until 3-12 months

Answer 221

reproducible immune-mediated allergic response to one or more proteins in cow’s milk

Answer 222

in the first 3 months of life in formula fed infants

Answer 223

Regurgitation and vomiting Diarrhoea urticaria , atopci eczema ‘Colic’ symptoms - irritability, crying Wheeze, chronic cough Rarely angioedema and anaphylaxis may occur

Answer 224

Diagnosis is most often clinical (e.g. improvement of symptoms with cow’s milk protein elimination) Skin prick/patch testing Total IgE and specific IgE rapid antigen spot testing (RAST) for cow’s milk protein

Answer 225

formula fed - extensive hydrolysed formula milk - if no response to eHF, amino acid-based formula in infants with severe CMPA breastfed - continue breastfeeding - eliminate cow's milk protein from maternal diet - use eHF milk when breastfeeding stops

Answer 226

Baby has intrauterine growth restriction, Jaundice, failure to thrive, itchy rash, dark urine hepatomegaly

Answer 227

raised unconjugated and conjugated bilirubin multinucleated giant cells + Rosette formation

Answer 228

foetal haemoglobin - this has a shorter lifespan than adult haemoglobin and is constantly being broken down - the newborn liver cannot cope with the large volumes of bilirubin resulting in build up in the blood breastfeeding jaundice - breastfed babies are often more jaundiced, and for longer than bottle-fed babies

Answer 229

infection metabolic disease seronegative hepatitis drug-induced neonatal haemochromatosis

Answer 230

a seizure accompanied by a fever in the absence of intracranial infection

Answer 231

6 months to 5 years

Answer 232

* epilepsy * meningitis, encephalitis or other neurological infection * intracranial space occupying lesions e.g. brain tumours, intracranial haemorrhage * syncopal episode * electrolyte abnormalities * trauma

Answer 233

child around 6 months presenting with a 2-5 min tonic-clonic seizure during a high fever

Answer 234

simple = generalised, tonic clonic seizures, <15 min and only occur once during single febrile illness - management is reassurence and education complex = partial or focal seizures, >15 mins, occur multiple times during one febrile illness - may need further investigation and hospitalisation

Answer 235

also known as West syndrome a rare disorder characterised by clusters of full body spasms which start around 6 mo age

Answer 236

poor prognosis : 1/3 die by 25 yrs, 1/3 seizure free treatment: prednisolone vigabatrin

Answer 237

occur in some toddlers when they are upset the child cries, holds his breath in expiration and goes blue sometimes children will briefly lose consciousness but rapidly fully recover drug therapy is not helpful but behaviour modification therapy with distraction may help

Answer 238

also known as reflex anoxic seizures where the child becomes pale and falls to the floor following a trigger - the hypoxia may induce a generalised tonic-clonic seizure occur in infants and toddlers commonest trigger = pain or discomfort particularly from minor head trauma, cold food, fright or fever

Answer 239

Very short attention span Quickly moving from one activity to another Quickly losing interest in a task and not being able to persist with challenging tasks Constantly moving or fidgeting Impulsive behaviour Disruptive or rule breaking

Answer 240

ADHD is most likely caused by a complex interplay of factors: neurobiologic (neuroanatomical and neurochemical) genetic influences environmental/psychosocial factors CNS insults (such as perinatal factors, CNS infections, FAS or premature.) Research repeatedly demonstrates that ADHD runs in families

Answer 241

1. Hyperactivity. 2. Inattention. 3. Impulsivity. (HII) These symptoms occur in every child from time to time but when they are persistent and impact on daily functions, more investigation is needed

Answer 242

Fidgety. Talkative. Noisy. Can’t remain seated. Often ‘On the go’ or acts as if driven by a motor

Answer 243

Blurts out answers. Interrupts. Difficulty waiting turns. When older, pregnancy and drug use.

Answer 244

Easily distracted. Not listening. Mind wandering. Struggling at school. Forgetful. Organisational problems. Does not appear to be listening when spokento directly Makes careless mistakes Loses important items

Answer 245

Clinical interview - are there any RF’s for ADHD? ADHD nurse classroom observation. Questionnaires (SNAP), Conor’s questionaire Quantitative behavioural (QB) analysis.

Answer 246

Education. Parenting programmes and school support. Medications e.g. methylphenidate. (Conerta, Equaysm), or Lisdexamfetamine (Elvanse)

Answer 247

undescended testes

Answer 248

Preterm birth Family history Low birth weight Small for gestational age Maternal smoking during pregnancy

Answer 249

Watching and waiting is appropriate in newborns as most will descend within the first 3-6 months

Answer 250

consider from 3 months baby should see urological surgeon at 6 months

Answer 251

In about 5% of boys the testes have not made it out of the abdomen by birth. At this point they are called undescended testes. They might be palpable in the inguinal canal (in the inguinal region), which is not technically classed as undescended testes, although they have not fully descended at that point.

Answer 252

Undescended testes in older children or after puberty hold a higher risk of testicular torsion, infertility and testicular cancer.

Answer 253

orchidoplexy (surgical correction) should be carried out between 6-12 months of age

Answer 254

twisting of the spermatic cord with rotation of the testicle which leads to ischaemia and eventually necrosis urological emergency with 6 hour window after onset before ischaemic damage is irreversible

Answer 255

Firm swollen testicle Elevated (retracted) testicle Absent cremasteric reflex Abnormal testicular lie (often horizontal) Rotation, so that epididymis is not in normal posterior position

Answer 256

rapid onset unilateral testicular pain abdo pain vomiting

Answer 257

one of the causes of testicular torsion where the fixation between the testicle and the tunica vaginalis is absent so the testicle hangs in a horizontal position (like a bell-clapper) instead of the typical more vertical position it is able to rotate within the tunica vaginalis, twisting at the spermatic cord

Answer 258

urological emergency! nil by mouth (in preparation for surgery) analgesia urgent senior urology assessment surgical exploration of the scrotum orchiopexy (correcting the position of the testicles and fixing them in place) orchidectomy (removing the testicle) - if there is necrosis

Answer 259

whirpool sign (spiral appearance to the spermatic cord and blood vessels)

Answer 260

Hydrocele refers to a collection of serous fluid between the parietal and visceral layers of the tunica vaginalis (membrane covering the testes).

Answer 261

Simple - overproduction of fluid in the tunica vaginalis Communicating - processus vaginalis fails to close, allowing peritoneal fluid to communicate freely with the scrotal portion

Answer 262

Management Resolve spontaneously Many of infancy resolve by 2 years Therapeutic aspiration or surgical removal

Answer 263

Smooth, extra-testicular, spherical sac of fluid in the head of the epididymis (top of testicle). - also known as a spermatocele

Answer 264

Investigations - Scrotal ultrasound Differential diagnosis - Hydrocele - Varicocele Management - Usually not necessary - Removed, if symptomatic

Answer 265

development of secondary sexual characteristic before 8 years of age in females and 9 years of age in males

Answer 266

gonadotrophin dependent (true precocious puberty) - caused by premature activation of the HPG axis - consonant (normal) sequence of pubertal development gonado-trophin independent (false precocious puberty) - caused by excess sex steroids outside the pituitary gland - dissonant sequence of pubertal development

Answer 267

usually idiopathic or familial gonadotrophin-independent causes e.g. congenital adrenal hyperplasia or adrenal tumours gonadotrophin-dependent causes e.g. pituitary adenoma

Answer 268

more likely to be pathological gonadotrophin-dependent causes e.g. intracranial tumour or rarely a liver tumour secreting beta-human chorionic gonadotrophin gonadotrophin-independent causes e.g. adrenal adenoma, congenital adrenal hyperplasia, gonadal tumour

Answer 269

detection and treatment of any underlying pathology reducing the rate of skeletal maturation addressing psychological/behavioural difficulties associated with early progression through puberty

Answer 270

- maldescent of the thyroid and athyrosis - dyshormonogenesis (inborn error of thyroid hormone synthesis) - iodine deficiency - TSH deficiency

Answer 271

* faltering growth * feeding problems * prolonged jaundice * constipation * pale, cold, mottled dry skin * coarse facies * large tongue * hoarse cry * goitre (occasionally) * umbilical hernia * delayed development

Answer 272

routine neonatal biochemical screening (Guthrie test) performed on all newborn infants, by identifying a raised TSH in the blood

Answer 273

levothyroxine before 2-3 weeks of age (needed this early to prevent impaired neurodevelopment) - treatment is lifelong

Answer 274

Hypogonadotrophic hypogonadism (secondary): a deficiency of LH and FSH Hypergonadotrophic hypogonadism (primary): a lack of response to LH and FSH by the gonads (the testes and ovaries)

Answer 275

* Systemic disease: – cystic fibrosis, severe asthma, Crohn’s disease, organ failure, anorexia nervosa, starvation, excess physical training * Hypothalamo-pituitary disorders: – pituitary dysfunction – isolated gonadotrophin or growth hormone deficiency – intracranial tumours (including craniopharyngioma)

Answer 276

* Chromosomal abnormalities: – Klinefelter syndrome (47,XXY) – Turner syndrome (45,XO) * Steroid hormone enzyme deficiencies * Acquired gonadal damage: – postsurgery, chemotherapy, radiotherapy, trauma, torsion of the testis, autoimmune disorder

Answer 277

when there is no evidence of pubertal changes in a girl aged 13 or a boy aged 14 Full blood count and ferritin for anaemia U&E for chronic kidney disease Anti-TTG or anti-EMA antibodies for coeliac disease Early morning serum FSH and LH (the gonadotropins). Thyroid function tests Growth hormone testing. Insulin-like growth factor I is often used as a screening test for GH deficiency. Serum prolactin Genetic testing for: Kleinfelter’s syndrome (XXY) Turner’s syndrome (XO)

Answer 278

Early morning serum FSH and LH (the gonadotropins). These will be low in hypogonadotrophic hypogonadism and high in hypergonadotrophic hypogonadism. Imaging can be useful: Xray of the wrist to assess bone age and inform a diagnosis of constitutional delay Pelvic ultrasound in girls to assess the ovaries and other pelvic organs MRI of the brain to look for pituitary pathology and assess the olfactory bulbs in possible Kallman syndrome

Answer 279

a genetic form of hypogonadotrophic hypogonadism, which prevents a person from starting or fully completing puberty

Answer 280

total lack of sense of smell or a reduced sense of smell

Answer 281

hormone replacement therapy to replace testosterone or oestrogen and progesterone

Answer 282

x-linked recessive or dominant

Answer 283

congenital deficiency of the 21-hydroxylase enzyme which causes underproduction of cortisol and aldosterone and overproduction of androgens from birth

Answer 284

autosomal recessive

Answer 285

21-hydroxylase is the enzyme responsbile for converting progesterone into aldosterone and cortisol progesterone is used to make to testosterone but this process does not involve 21-hydroxylase in CAH, a defect in this enzyme results in more progesterone floating around which cant be converted into aldosterone or cortisol so it gets converted into testosterone instead this results in a patient with low aldosterone, low cortisol and abnormally high testosterone

Answer 286

in female patients, CAH usually present at birth with virilised genitalia, known as ambiguous genitalia and an enlarged clitoris due to the high testosterone levels patients with more severe CAH present shortly afetr birth with hyponatraemia, hyperkalaemia and hypoglycaemia this leads to signs and symptoms: Poor feeding Vomiting Dehydration Arrhythmias

Answer 287

tall for their age facial hair absent periods deep voice early puberty

Answer 288

tall for their age deep voice large penis small testicles early puberty

Answer 289

the anterior pituitary gland responds to the low levels of cortisol by producing increasing amounts of ACTH a byproduct of the production of ACTH is melanocyte stimulating hormone this hormone stimulates the production of melanin within skin cells

Answer 290

an x-linked recessive genetic condition where cells are unable to respond to androgen hormones due to a lack of androgen receptors previously known as testicular feminisation syndrome

Answer 291

genetically male patients with an externally female phenotype (normal female external genitalia and breast tissue) due to absent response to testosterone patients have testes in the abdomen or inguinal canal and no internal female organs no pubic or facial hair or male muscle development infertile

Answer 292

the cells have a partial response to androgens so have more ambiguous signs and symptoms such as micropenis or clitoromegaly

Answer 293

Raised LH Normal or raised FSH Normal or raised testosterone levels (for a male) Raised oestrogen levels (for a male)

Answer 294

MDT support bilateral orchidectomy to avoid testicular tumours oestrogen therapy vaginal dilators or vaginal surgery generally patients are raised female but this is sensitive and tailored to the individual

Answer 295

increases the activity of GABA which has a relaxant affect on the brain by stopping the release of excitatory neurotransmitters

Answer 296

medical emergency defined as seizures lasting more than 5 minutes or more than 3 seizures in one hour

Answer 297

an umbrella term for chronic conditions where patients have a tendency to have recurrent, unprovoked epileptic seizures

Answer 298

Transient episodes of abnormal electrical in the brain which cause changes in behaviour, sensation or cognitive processes

Answer 299

originates in one hemisphere, retained awareness or impaired awareness, usually 2 minutes or less

Answer 300

focal aware seizure, focal impaired awareness seizure

Answer 301

tonic-clonic, absence, myoclonic, tonic, atonic

Answer 302

FHx CNS infection history Head trauma Prior seizure events/suspected seizure events Hx of substance use Premature birth Multiple or complicated febrile seizures

Answer 303

prodrome = mood changes, days before aura = minutes before, deja vu + automatisms (lip smacking, rapid blinking) - not always present (most commonly seen in temporal lobe epilepsy) ictal event = seizure post-ictal period = symptoms such as headache, confusion, ↓GCS, Todd's paralysis, dysphasia, amnesia, sore tongue (pts bite tongue during ictal phase)

Answer 304

loss of awareness memory lapse feeling confused difficulty hearing odd smells, sounds or tastes loss of muscle control changes in speech/ability to speak

Answer 305

confusion amnesia drowsiness hypertension headache nausea

Answer 306

can occur from sleep can be associated with other brain dysfunction lateral tongue bite deja vu incontinence

Answer 307

EEG, ECG, CT head + MRI

Answer 308

aim is to be seizure free on the minimum anti-epileptic medications 1st line = sodium valproate

Answer 309

no aura loss of consciousness tonic (muscle tensing, fall to floor) and clonic (muscle jerking) episodes typically tonic before clonic eyes open and upward gazing incontinence tongue biting post-ictal period

Answer 310

1st line: sodium valproate 2nd line: lamotrigine or carbamazepine

Answer 311

typically occur in children patient becomes blank, stares into space and then abruptly returns to normal last 10-20 seconds

Answer 312

sudden brief muscle contractions like a sudden jump patient normally remains awake during the episode occur in various forms of epilepsy but typically happen in children as part of juvenile myoclonic epilepsy

Answer 313

originate in temporal lobes affect hearing, speech, memory and emotions present with hallucinations, memory flashbacks, deja vu, doing strange things on autopilot

Answer 314

Jacksonian march + Todd's palsy

Answer 315

aura, dysphagia, post-ictal period

Answer 316

vision changes

Answer 317

1st: carbamazepine or lamotrigine 2nd: sodium valproate or levetiracetam

Answer 318

simple: no LOC, patient awake + aware, uncontrollable muscle jerking confined to one part of body complex: LOC, patient unaware, post-ictal period

Answer 319

Vascular Infection Trauma Autoimmune e.g. SLE Metabolic e,g. Hypocalcaemia Idiopathic e.g. epilepsy Neoplasms Dementia + Drugs (cocaine) Eclampsia

Answer 320

paroxysmal event in which changes in behaviour sensation and cognitive function caused by mental processes triggered by internal or external aversive stimuli

Answer 321

situational duration 1-20 mins dramatic motor phenomena/prolonged atonia eyes closed ictal crying and speaking suprisingly rapid or slow post-ictal recovery history of psychiatric illlness, other somatoform disorders

Answer 322

when a person feels they are overweight despite evidence of normal or low body weight involves obsessive restriction of calorie intake with the intention of losing weight often combined with excessive exercising and diet pills or laxatives to restrict absorption of food

Answer 323

Deliberately keeping weight <85% of expected Morbid fear of fatness (intensive overvalued idea) Endocrine effects (menstruation stops, delayed puberty, loss of sexual interest/potency)

Answer 324

excessive weight loss amenorrhoea lanugo hair (fine, soft hair covering the body) hypokalaemia hypotension hypothermia changes in mood, anxiety and depression solitude cardiac complications include arrhythmia, cardiac atrophy and sudden cardiac death

Answer 325

binge eating disorder normally associated with normal or fluctuating weight as people with the condition binge eat and then purge by inducing vomiting or taking laxatives to prevent calorie absorption

Answer 326

alkalosis (due to vomiting HCl from the stomach) hypokalaemia erosion of teeth swollen salivary glands mouth ulcers gastro-oesophageal reflux and irritation Russell's sign - calluses on the knuckles where they have been scraped across the teeth

Answer 327

An insulin deficiency disease characterised by loss of beta cells due to autoimmune destruction.

Answer 328

- HLA DR3 and DR4 and islet cell antibodies - Other autoimmune diseases - Environmental infections (e.g. viruses)

Answer 329

Beta cells express HLA (human leukocyte antigen) which activates a chronic cell mediated immune process leading to chronic 'insulitis' and consequently insulin insufficiency

Answer 330

Young lean pt - polydipsia - nocturia/polyuria - glycosuria - polyphagia (excessive eating) + weight loss - excessive tiredness

Answer 331

Basal Bolus Insulin - basal = longer acting to maintain stable insulin levels throughout day - bolus = faster acting, 30 mins preprandial to give "insulin spike"

Answer 332

Result of too much gluconeogenesis so that glucose is converted to ketone bodies which are acidic. Caused by poorly managed T1 DM or from infection/illness

Answer 333

T1DM symptoms +... - Kussmaul breathing (deep laboured breaths to compensate for increased CO2) - Pear drop breath (breath smells fruity due to ketones) - Reduced tissue turgor, hypotension + tachcardia

Answer 334

Ketones >3mmol/l Random plasma glucoe >11.1mmol/l pH<7.3 or <15mmol HCO3-

Answer 335

- in an emergency ABCDE - 1st line always fluid (dehydration is most likely cause of death) - then insulin (+ glucose and postassium)

Answer 336

- cerebral oedema - adult respiratory distress syndrome - thromboembolism - aspiration pneumonia (drowsy/comatose patients) - death

Answer 337

insulin decreases potassium levels in the blood by redistributing K+ into the cells via increased Na/K pump activity causing low serum K+ levels --> hypokalaemia low levels of K+ can cause arrhythmia, weakness (as the heart and muscles can struggle to contract)

Answer 338

when a female has a single X chromosome, making them 45 XO

Answer 339

short stature webbed neck high arching palate downward sloping eyes with ptosis broad chest with widely spaced nipples cubitus valgus underdeveloped ovaries with reduced function late or incomplete puberty most women are infertile

Answer 340

Recurrent otitis media Recurrent urinary tract infections Coarctation of the aorta Bicuspid aortic valve Hypothyroidism Hypertension Obesity Diabetes Osteoporosis Various specific learning disabilities

Answer 341

growth hormone therapy (to prevent short stature) oestrogen and progesterone replacement fertility treatment management of secondary conditions