Paediatrics

Question 1

What extra information needs to be included in a paediatric history

Answer 1

Perinatal: any issues during pregnancy, any concerns, what birth was like, did the baby require any special care
Development and growth: growth charts / red book, concerns from doctors, developmental milestones, how they manage in school, what reading level they are
Vaccines
Social: good idea of what home life is like, who they live with, everyone who looks after them, what they do outside of school, if they get help from social workers

Question 2

What are the development milestones

Answer 2

6w - smiles back
3m - on arms whilst prone, grabbing with hands, laughs and squeals
6m - rolling + sitting, putting in mouth, transferring objects - palmar, finger feeds
9m - crawling, supported standing, babbling (mama, dada), waves
12m - scribbles crayon, pincer, says 1 word, eats with spoon messily, follows simple instructions
18m - walking, stacks 2 cubes, 5-10 words
2 - stairs, running, 2 word sentences, copies line with crayon

Wake up story
2am alarm: lift head, turn towards sound, smile as can go back to sleep
4am alarm: lift head and chest, yawn (coo + hand to mouth), laugh as go back to sleep
6am alarm: roll over, reach for phone (objects) and transfer, responds to name and sit up
9am work out starts: bear crawls, pull ups (supported standing), babbles triumphantly
12: walk holding onto things as sore legs, feeds self, pinches fat, mum says to draw so you say ok (follows simple instructions, scribbles crayon and says one word at a time)

Question 3

What are the development red flags

Answer 3

Regression at any age
Gross: sitting by 1, walk by 18m
Fine: hand preference before 18m - potential neuromuscular issue in other limb
SLT: not smiling by 3m, no clear words before 18m
Social: no response to carers interaction by 8w, not interested in playing with peers by 3

Question 4

Describe the vaccination schedules

Answer 4

BCG (TB) at birth if risk factors - family from area with high rates
6 in 1 before 6 months (2, 3, 4 months), 4 in 1 before 4, 3 in 1 (+ Men ACWY) after 13
6 in 1: diphtheria, tetanus, polio, whooping cough, Haemophilus influenzae B, hepatitis B
2m: rota (oral) + Men B
3m: rota + pneumococcal
4m: Men B
(3) 4 in 1: diphtheria, tetanus, polio, whooping cough. MMR
(13) 3 in 1: diphtheria, tetanus, polio. 13 Men ACWY (W added recently can also be given to older)
At 1 have Hib / Men C (2 in 1), pneumococcal, Men B and MMR
Yearly influenza from 2-8. HPV 12-13

Question 5

What are the red flags for infection in under 5s and what investigations

Answer 5

Nice high risk for infection <5: cyanosis, reduced turgor, no response to social cues, won’t stay awake, grunting / intercostal recession, resp rate >60, <3m and >38 degrees, non blanching rash, meningitis / neurological signs
Investigating fever in under 3m: FBC, blood culture, CRP, urine dipstick, CXR if respiratory, stool culture if diarrhoea

Question 6

Kawasaki disease - diagnostic criteria, treatment, complications

Answer 6

Always suspect kawasaki disease for fever 4/5 days; diagnostic criteria fever for 5d plus 4/5: conjunctivitis, oral changes (red / cracked lips, strawberry tongue), cervical lymphadenopathy, red palms / soles that later peel, rash
Treatment is aspirin (protect coronary arteries) and if required Iv immunoglobulin and steroids

Dangerous complications: myocarditis, coronary artery aneurysm, myocardial infarct. First line investigation is echocardiogram for complications

Question 7

Neonatal sepsis - most common causes, symptoms, treatment

Answer 7

Neonatal sepsis (first 28d), group B S + E.coli 75%: respiratory distress (85%), apnoea, jaundice, seizures, poor feeding
IV benzylpenicillin + gentamicin, monitor CRP - antibiotics can be stopped at 48h if CRP <10

Question 8

Acute epiglottitis - presentation, diagnosis, management

Answer 8

rapid onset, high temp, stridor, drooling (can’t swallow), tripod position (easier to breathe leaning forward and extending neck). Medical emergency. Caused by haemophilus influenza b

Diagnosis by direct visualisation (only by trained staff) then secure airway; xray - swelling of epiglottis (thumb sign) + subglottic narrowing, bloods and throat swab

Secure airway / intubation, oxygen, neb adrenaline, IV antibiotics - cefotaxime / ceftriaxone

Question 9

Group A strep - presentation(s), score, treatment

Answer 9

Prodrome: sore throat, fever, headache, n+v, aching, often absence of cough
Skin: red, generalised, pinhead sandpaper rash. Mouth: strawberry tongue, inflamed tonsils
Assessment of strep throat - FeverPAIN score: fever, purulence, attend within 3d of starting, inflamed tonsils, no cough / coryza; score out of 5, 4+ 65% likelihood of strep throat
Scarlet fever, impetigo, cellulitis, pharyngitis. Invasive infections: pneumonia, septicaemia, meningitis, necrotising fasciitis, toxic shock syndrome. Give phenoxymethylpenicillin (Pen V)

Question 10

Infection mononucleosis - presentation, investigation, management

Answer 10

Sore throat, pyrexia, lymphadenopathy; caused by herpes 3, lasts 2-4w, fatigue can be prolonged; malaise, headache, petechiae, splenomegaly in 50%.

Diagnosis with heterophil antibody test (2nd week of illness).

Supportive Mx - rest, fluid, simple analgesia, avoid contact sports for 4w - splenic rupture

Do not give amoxicillin or ampicillin - 99% get maculopapular pruritic rash

Question 11

Bronchiolitis - pathophysiology, presentation, investigations, management

Answer 11

Bronchiolitis most common infection in infants. Usually viral - RSV, influenza, parainfluenza.

Immunofluorescence of nasopharyngeal secretion GS investigation

Snotty, increased WOB, decreased feeding, wheeze + fine crackles, feeding associated dyspnoea.

Supportive treatment - O2 and NG feeding
Hospital referral: RR > 60, difficulty breathing, <75% feeding, clinical dehydration

Question 12

Viral induced wheeze - presentation and management

Answer 12

Viral induced wheeze (following infection for weeks). Coryza, cough, wheeze, low fever, decreased air entry, bilateral wheeze. Supportive O2, salbutamol + nebulisers, dexamethasone if life threatening

Question 13

Asthma management in children

Answer 13

Salbutamol as needed first line, if > 3 p/w add beclometasone (low dose ICS), add montelukast, remove LTRA and add salmeterol (LABA), SABA + MART (ICS and fast acting LABA (formoterol) in one inhaler), increase dose of ICS
Acute: high flow oxygen, salbutamol, oral prednisolone, neb ipratropium bromide. 5 days oral prednisolone following

Question 14

Croup - presentation, management, bug causing

Answer 14

characteristic barking cough, stridor, inflammation of upper airways, infection or foreign body, worse at night. Most commonly caused by parainfluenza virus

Treat without upsetting child, oxygen, oral dexamethasone 0.15 mg/kg (too unwell - inhaled budesonide / IM dexa), high flow O2 + neb adrenaline
Admit for moderate / severe: stridor at rest, recession, frequent barking cough. Or <6m

Remember parainfluenza as most common in autumn and spring (not flu, flu = winter)

Question 15

Pneumonia - presentation, signs, management

Answer 15

Pneumonia: coryzal for 5 days, fever > 39.5 for 2 days, wet unproductive cough, lethargy, sob
Low sats, high HR, asymmetrical chest movements, fever, bronchial breathing. CXR
Bacterial: oral amoxicillin, severe IV benzylpenicillin. Not resolving / atypical clarithromycin

Question 16

Whooping cough - pathogenesis, presentation / diagnostic criteria, investigations, management

Answer 16

Whooping cough (bordetella pertussis): catarrhal URTI phase for 1-2w (viral symptoms), paroxysmal (symptoms progress to peak) 2-8w, convalescent (resolves) weeks to months

Diagnostic criteria - acute cough for 14+ days with no other cause and one of: paroxysmal cough, inspiratory whoop, post-tussive vomiting, apnoeic attacks in infants.
Extreme cough, worse at night + after feeding, ended by vomiting, central cyanosis

Nasal swabs + PCR

Macrolide (clar + azithromycin) in first 21d, under 6m admit, notifiable disease, household prophylaxis and school exclusion.

Question 17

What are the 3 cyanotic congenital heart diseases, describe PDA

Answer 17

3 cyanotic congenital diseases (rest acyanotic): tetralogy of fallot, transposition of great arteries, tricuspid atresia. (Pulmonary valve stenosis can cause cyanosis if other defects)

PDA (between pulmonary trunk and aorta): left subclavicular thrill, continuous machinery murmur, large bounding pulse, heaving apex beat
Close when isolated - indomethacin (inhibits prostaglandin synthesis)
Keep open in cyanotic defects before surgery - prostaglandin E1

Question 18

Describe Wolff-Parkinson-White

Answer 18

Wolff-Parkinson-White: lesion bypasses AV node → supraventricular tachycardia. Short PR + delta QRS waves. Later in life can cause AF and ventricular fibrillation
Give atenolol, surgical ablation

Question 19

Describe Marfan’s

Answer 19

Marfan’s - connective tissue (fibrillin): tall, long limbs, sternal defect, scoliosis, high arched palate
Increased cardiac risk: aortic aneurysm + dissection, mitral prolapse, aortic regurgitation
MARFANS: mitral prolapse, aortic aneurysm, retinal detachment, fibrillin (FBN1), arachnodactyly, negative nitroprusside test, subluxated lens

Question 20

Describe VSD, ASD, pulmonary stenosis, transposition of great arteries

Answer 20

Ventricular sd most common, acyanotic, excess blood in right side, leads to RVH and pul HT - heart failure (hepatomegaly, tachypnoea + cardiac, pallor) . Pan systolic near L sternum
Small asymptomatic usually resolve, larger - nutrition, diuretics, surgical closure (min weight)

Atrial SD: usually asymptomatic, potential to lead to pul HT, Right sided HF

Pulmonary stenosis: lack of pulmonary artery growth in pregnancy, pan systolic

Transposition of great arteries = aorta and pulmonary artery are attached to other sides of heart

Question 21

Describe tetralogy of fallot

Answer 21

Tetralogy of fallot: most common cyanotic, VSD, pulmonary stenosis, RVH, overriding aorta (aorta directly above VSD)
Cyanosis - especially during feeding and crying, tet spells - sudden episode of profound cyanosis
Surgery is definitive Mx, oxygen, prostaglandin E1 (infants), TET spells - oxygen + morphine +/- IV propranolol, oral propranolol prophylaxis

Question 22

Describe innocent murmurs in children

Answer 22

Innocent murmurs fairly common in children, characteristics: asymptomatic, systolic not diastolic, can change with posture, no radiation
Venous hums: continuous blowing below clavicles (great veins returning to heart)
Still’s: low pitched lower left sternal edge (not sure cause, blood in heart)

Question 23

Describe normal feeding in infants

Answer 23

Feeding = 100-150ml / kg / day. Significant decrease in feeding is cause for concern. Check not being fed too much when presenting with vomiting

Question 24

Describe necrotising enterocolitis, presentation, investigations, management, complications

Answer 24

Necrotising enterocolitis (NEC), neonates / low birth weight + premature, 3rd week: distension / ascites, cellulitis + erythema, mucoid stool, bilious vomiting, shock, potential perforation. Severe need surgery

Immature GI (intestines vulnerable to infection), infection occurs → inflammation → reduced blood flow and ischaemia → injury → necrosis + perforation. Premature more vulnerable

XR: wall thickening, loops filled with gas (string of pearls), ascites

Nil by mouth, IV fluids and total parenteral nutrition, triple IV abx (10-14d), paracetamol

Complications: short bowel syndrome (surgery), sepsis, strictures, fistulae, abscess, iatrogenic

Question 25

Hirsprung’s - pathogenesis, investigations, management

Answer 25

Hirschsprung’s: absence of ganglion cells in colonic wall, delayed passage of meconium, distension, associated with Down’s. X ray (dilated bowel with fluid levels), rectal biopsy GS. rectal washouts + bowel irrigation, surgery (Swenson procedure) of affected segment

Question 26

Pyloric stenosis - presentation, complication, management

Answer 26

Pyloric stenosis: bringing milk up → projectile vomiting, dehydration, reduced weight gain, feel lump and confirm with US
Leads to lack of hypochloremic alkalosis, breathing stops and dehydration
Surgery required, analgesia, treat dehydration

Question 27

Describe gastroschisis and exomphalos

Answer 27

Gastroschisis: organs outside the abdomen, often identified in antenatal USs, need immediate surgery to resolve, increases risk of NEC and malrotation. M>F, increased if mum had
Exomphalos: intestines / + liver in membrane (previously umbilical cord), IV fluids, TP nutrition. Gradual repair with completion in 6-12m to prevent respiratory complications

Question 28

Describe malrotation and volvulus

Answer 28

Malrotation + volvulus: dj flexure in wrong place, volvulus where blood supply cut, pain, constipation, bilious vomiting. Contrast XR, surgery - Ladd’s procedure

Question 29

Describe intussusception and meckel’s diverticulum

Answer 29

Intussusception (bowel folds in): intermittent pain, vomiting, bloating, bloody stool, bilious vomiting

6-18m, 90% unknown cause - can be infection, anatomical, altered motility, meckel’s

Investigate with US (target sign), majority can by treated with reduction by air insufflation (barium enema no longer used as much), surgery

Meckel’s diverticulum (1-2y): (asymptomatic) abdominal pain, rectal bleeding (most common cause of massive bleed), intestinal obstruction. Surgical removal

Stable - technetium scan, unstable - mesenteric arteriography

Congenital diverticulum of small intestine, gastric mucosa in intestine. Intestinal obstruction secondary to omphalomesenteric band / volvulus / intussusception

Question 30

Describe Cow’s milk allergy and transient lactose intolerance

Answer 30

Cow’s milk allergy common in babies, from 12m onwards can reintroduce if non IgE
IgE: regurgitation + vomiting, diarrhoea, urticaria / eczema, colic, wheeze + chronic cough, rarely anaphylaxis + angioedema
Non IgE: reduced feeding, GORD, discomfort, constipation / diarrhoea, atopic eczema
Infants 2w trial extensively hydrolysed formula, no response amino acid based. If BF mum needs to go dairy free
Ladder: biscuit, muffin, pancakes, cheese, yoghurt, milk

Transient lactose intolerance can be secondary to gastroenteritis damaging crypts, watery poo, sore bum

Question 31

Describe neonatal jaundice

Answer 31

Jaundice: normal days 2-10, first 24h pathological (haemolytic, rhesus / ABO incompatibility, sepsis, haem abnormalities) - rhesus etc can present after 24h

Phototherapy breaks down bilirubin so water soluble, exchange transfusion (exchange blood 5ml at a time until completely replaced)

Kernicterus: unconjugated only bilirubin, crosses BBB (underdeveloped in neonates) and settles in basal ganglia causing dyskinesia, dystonia, spasticity. Phototherapy + exchange transfusions

Question 32

Describe biliary atresia

Answer 32

Biliary atresia (prenatal / neonate) - obliteration / discontinuation of extrahepatic tree, bile builds in liver - damage, loss of function + cirrhosis, liver failure. Surgery / transplant, ursodeoxycholic acid until then
Raised conjugated (specific - liver issue) jaundice (dark urine + pale stools), hepato + splenomegaly, faltering growth. Raised conjugated + GGT (LFT), US

Question 33

Describe UTI in children and neonates

Answer 33

< 3m have very vague symptoms - hospital admission and sepsis screen

Clean catch urine ideal (strip, clean, parents wait with cup). US (congenital) after 6w for simple resolving, immediate US + DMSA + MCUG for atypical (not e coli / needs IV / function affected) and recurring. Checking for potential renal scarring → CKD, hypertension

Lower: nitrofurantoin, trimethoprim. Pyelonephritis: cephalosporin, co amoxiclav 7-10d

In 30% vesicoureteric reflux (urine back to ureter / kidneys) - congenital abnormal VU junction; 35% renal scarring.

Question 34

Describe febrile convulsions

Answer 34

Febrile convulsions (6m-5, ~18m most): simple = generalised < 15m, complex = partial / focal > 15m. Exclusion diagnosis - first case admission. Give paracetamol and treat cause of fever. In recurrent give buccal midazolam / rectal diazepam. Tell parents to call ambulance if >5min

Question 35

Describe juvenile epilepsy

Answer 35

Epilepsy: absence, juvenile myoclonic, benign rolandic, Lennox-Gastaut. Urgent paeds neuro referral
Absence: 4-8y, ethosuximide, 90-95% resolve
JM: teenage girls, infrequent generalised around sleep, daytime absences, myoclonic. Sodium valproate
BR: 4-12, paraesthesia, at night / on waking, partial with potential generalisation. EEG - centrotemporal spikes

Question 36

Describe muscular dystrophy

Answer 36

Muscular dystrophy (genetic conditions that cause gradual weakness): proximal muscle weakness - specific standing from lying (Gower’s sign - hands + knees, hands push off legs). Supportive treatment
Duchenne’s MD: most common, dystrophin X linked, 3-5y, weakness around pelvis, progresses to wheelchair and death 25-35. Raised creatinine kinase and genetic testing. Beckers very similar but less severe and starts >10y

Question 37

ADHD - diagnostic criteria, management

Answer 37

ADHD diagnosis in clinical interview, 6/9 inattentive and 6/9 hyperactive; inattention - doesn’t follow instructions, reluctant to engage in challenging tasks, easily distracted, difficult to organise, forgetful… ; hyperactive / impulsive (including emotional dysregulation) - always fidgeting, can’t play quiet, talks excessively, doesn’t wait turn, interrupts, run and climb when inappropriate …
Symptoms have to be persistent for 10w and affect life, mild / moderate parent education, severe methylphenidate (ritalin) for 6w trial (ECG at start, monitor weight and height 6m) - inadequate lisdexamfetamine. 5y+ for medication

Question 38

Describe cerebral palsy and the causes

Answer 38

Cerebral palsy: abnormal tone, delayed motor development, abnormal gait, feeding difficulties. Also learning difficulties, epilepsy, squints, hearing impairment
Spastic: UMN - increased tone, spasticity; dyskinetic: basal ganglia - athetoid movements, oro-motor problems; ataxic - cerebellum; mixed
MDT approach, spasticity (diazepam, baclofen, botox, surgery, rhizotomy), anticonvulsants
Causes: antenatal 80% (cerebral malformation, rubella / CMV / toxoplasmosis), birth trauma, postnatal (intraventricular haemorrhage, meningitis, trauma)

Question 39

Describe ITP and HSP

Answer 39

Idiopathic thrombocytopenic purpura: spontaneous non blanching purpuric / petechiae, hypersensitivity II against platelets → bleeding / bruising.

FBC for platelet count, treatment required below 10 (supportive usually enough): prednisolone, IV immunoglobulins, blood transfusion

Often preceded by glandular fever

HSPurpura: IgA vasculitis (inflammation of capillaries); skin (all) - legs / buttocks (trunk spared) purpuric non blanching rash, ulcers; joint pain, abdo pain, IgA nephritis - peripheral oedema

Rule out meningococcal septicaemia + leukaemia. FBC, renal profile. Supportive treatment

Hospital admission: inability to maintain hydration, severe abdo pain, GI bleeding, altered mental status, renal involvement. Oral / IV steroids, plasmapheresis, renal transplant
Complications: GI haemorrhage, intussusception, bowel infarction. Nephritis, arthritis

Question 40

Describe hand foot and mouth, parvovirus, roseola

Answer 40

Hand foot and mouth: viral URTI (coxsackie A), mouth ulcers (tongue), blistering red spots. Paracetamol + fluids. (Cock - in hand / mouth / foot)

Parvovirus B19 / erythema infectiosum: slapped cheek, down arms, self limiting but dangerous in pregnancy - causes anaemia + HF, check immunity and give IVIG
In immunoC can cause pancytopenia, sickle cell - aplastic crisis. (charva virus - slaps)

Roseola infantum: high fever prodrome, followed later by maculopapular rash (trunk / chest then limbs), nagayama spots (uvula + soft palate). 6m -2y, febrile convulsions common, caused by human herpes V 6. (Rose got herpes 6 times on her chest)

Question 41

Describe acne

Answer 41

Acne: chronic inflammation of pilosebaceous unit - excess sebum and trapped keratin. Benzoyl peroxide / niacinamide, abx, isotretinoin (most effective but severe mood / liver side effects)
Mild to moderate - topical: benzoyl peroxide / tretinoin + clindamycin. Or benzoyl + adapalene
Moderate to severe: ad + BP and oral lymecycline / doxycycline. Azelaic acid and oral lym / dox. Alternative abx: trimethoprim and erythromycin

Question 42

Describe eczema

Answer 42

Eczema: chronic atopic, breakdown of skin barrier, flexor surfaces / face / neck. Maintenance: emollients (greasy - hydromol, lipobase) whilst washing, after washing, before bed. Flares: thicker emollients, wet wraps, topical steroids (only hydrocortisone on face), severe - oral abx, steroids
Infection most commonly staph A - give oral flucloxacillin
Eczema herpeticum: herpes simplex (HSV) infection, punched out lesions, immediate aciclovir, prophylaxis if repeats
Well demarcated is likely to be contact dermatitis - important to find source and change

Question 43

Describe chicken pox

Answer 43

Chickenpox (varicella zoster): fever, rash starting on head / trunk and spreading, macular → vesicular
Spread via respiratory, infective 4 days pre rash to 5 days after rash starts
Supportive treatment: keep cool, trim nails, calamine lotion. NSAIDs increase risk of secondary bacterial infection if GAS - necrotising fasciitis

Question 44

Describe measles, mumps and rubella

Answer 44

Measles: 2-3d prodrome, fever, (CCCK:) coryza, conjunctivitis, cough, Koplik’s spots (inside cheeks), maculopapular rash - starts behind ears then spreads down, rash covering most of skin. Can develop to otitis media (most common), pneumonia, encephalitis (1-2w post)

Mumps: bilateral very swollen glands

Rubella: mild measles, starts in face and spreads, vague / ill define, occipital lymph nodes

Question 45

Describe JIA, diagnosis, management, systemic manifestations

Answer 45

Juvenile idiopathic arthritis: group of chronic inflammatory arthritides: oligoarticular, polyarticular, systemic onset (psoriatic, enthesitis related)

Clinical diagnosis: >6w, joint pain + swelling, morning stiffness, limited ROM, fever in systemic. Commonly FHx of autoimmune, HLA association. Usually presents under 6

Treatment: NSAIDs for pain + methotrexate FL DMARD; oligo - intra articular steroids; poly - methotrexate; systemic - trial NSAID, anakinra / methotrexate; MAS - anakinra

Systemic: salmon pink rash, high fevers spikes, weight loss. Risk of anaemia, thrombocytopaenia, leukocytosis, pleuritis + pericarditis, macrophage activation syndrome
All types at risk of anterior uveitis, asymptomatic - regular ophthalmology appointments

Question 46

Describe Perthes and slipped capital femoral epiphysis

Answer 46

Perthes: progressive hip pain, limp, reduced range of movement; avascular necrosis of femoral head, idiopathic (mechanical stress?), 5-8, most resolve
Xray: widening of joint space, decreased femoral head; technetium bone scan / MRI. Exam: painless limp, decreased range of movement (guarding on internal rotation and abduction), shorter length in advanced, trendelenburg positive
Cast + braces, <6 observation, surgical in older and severe

Slipped capital femoral epiphysis: around puberty, typically obese + short or tall + thin, displaced femoral head posteroinferiorly - loss of internal rotation in flexion, trauma or chronic, pain, bilateral in 20%. Frog leg x ray. Needs internal fixation - cannulated screw
Exam: pain + referred, painful limp, externally rotated foot gait, reduced range of motion especially internal rotation with flexion

Question 47

Describe developmental dysplasia of the hip

Answer 47

Developmental dysplasia of the hip, increased risk if: female *6 m, parents / siblings, breech 36w, breech at birth 28w, multiple pregnancy. Screened for using ortolani (hip and knee flexed, abduct hips) and barlow (both hip / knee at 90, press down). Palvik harness, surgery
Requires 6w US of hips if breech 36w onwards

Question 48

Describe transient synovitis

Answer 48

Transient synovitis: acute onset after resp illness, unilateral, don’t want to weight bear but no pain on rest, pain on extremes on ROM, US shows effusion, usually resolves, NSAIDs / rest / physio

Question 49

Describe Down’s

Answer 49

Down’s has distinct features: face (flat, palpebral fissures, epicanthic folds, protruding tongue), single palmar crease + bigger ‘sandal gap’. Congenital heart defects, duodenal atresia, Hirschprung’s

Cardiac: atrioventricular SD 40%, ventricular SD 30%, atrial SD 10%, tetralogy of fallot 5%

Later complications: subfertility (almost all M infertile), learning difficulties, repeated resp infections, hypothyroidism, alzheimer’s, atlantoaxial instability, hearing loss, visual disturbance. 30* more likely to develop ALL and 100* more likely to develop AML.

Screening 11-13+6: ^nuchal translucency, ^bHCG, VPAPP-A; quadruple test 15-20: ^bHCG, ^inhibin A, Valpha fetoprotein, Vunconjugated oestriol; non invasive or amniocentesis / chorionic villus sampling

Question 50

Describe cystic fibrosis

Answer 50

Cystic fibrosis: recessive, faulty chloride channels, thick pancreatic + biliary secretions - blockage of ducts, thick airway secretions - reduced clearance + bacterial colonisation, absent vas deferens (M)
Chronic cough + thick sputum, steatorrhoea, abdo pain + bloating. Meconium ileus, recurrent respiratory infections, failure to thrive, pancreatitis
Newborn blood spot test, sweat test (chloride concentration, electrodes) GS, genetic testing
Management: >2 daily chest physio + postural drainage, high calorie + fat diet, pancreatic enzyme supplements (creon). Lumacaftor / ivacaftor
P. aeruginosa opportunistic lung infection common in CF, significant mortality - eradicate with ciprofloxacin
Can cause diabetes - suspect when weight loss
Contraindication for lung transplant = burkholderia cepacia infection

Question 51

Describe Turner’s

Answer 51

Turner’s 45,XO/X: short stature, shield chest, webbed neck, bicuspid / coarctation aorta (risk of stenosis + dissection), primary amenorrhoea, cubitus valgus (elbow). Raised gonadotrophins
Treatment: growth hormone, oestrogen + progesterone, fertility treatment
Associated with: aortic dissection, hypothyroidism, other autoimmune

Question 52

Describe congenital adrenal hyperplasia

Answer 52

Congenital adrenal hyperplasia (group of recessive): lack of enzymes → low cortisol (and low aldosterone - same precursors) - anterior pituitary secretes high ACTH (no -ve feedback) → increased adrenal androgens

Classical more severe and presents early, non-classical diagnosed later in life
Classical; Salt wasting crisis type (life threatening):vomiting + dehydration, electrolyte imbalance (hyponatraemia, hyperkalaemia) and shock. Simple virilizing: females present with ambiguous genitalia + accelerated puberty due to androgens. Late onset (similar to PCOS)

Non classical: early puberty, irregular periods, hirsutism, acne, infertility

ACTH stimulation testing for diagnosis - inadequate cortisol response to synthetic ACTH

Treatment: hydrocortisone (cortisol) and fludrocortisone (aldosterone), spironolactone / contraception for androgens

Question 53

Describe Edwards, patau’s, fragile X, prader-willi, william’s

Answer 53

Edwards (T18): micrognathia, low set ears, rocker bottom feet, overlapping fingers

Patau’s (T13): microcephalic, small eyes, cleft lip / palate, polydactyly, scalp lesions

Fragile X (autism): learning difficulties, macrocephaly + long face, macroorchidism (balls)

Prader-Willi (harvey price): hypotonia, hypogonadism, learning difficulties, obesity

William’s (will ferrell - elf): short, friendly extrovert, learning difficulties, transient neonatal hypercalcaemia, supravalvular aortic stenosis

Question 54

Describe trends in dominant / recessive conditions

Answer 54

Majority of conditions are autosomal dominant, recessive: cystic fibrosis, sickle cell, haemochromatosis, Gilbert’s syndrome
Majority of recessive are metabolic, apart from inherited ataxias
Majority of dominant are structural, apart from Gilbert’s and hyperlipidaemia TII

Question 55

Describe neonatal exam

Answer 55

General appearance: colour, tone, cry, skin changes

Head: appearance, head circumference, fontanelles + sutures, ears; mouth appearance + suckle
Eyes: fully open, size, symmetry, clarity of cornea, pupils, red reflex.
Cataracts = central shadow / no red. Retinoblastoma = white reflex
Hearing: otoacoustic emission test for all newborns, if they fail auditory brainstem response test
(6-9m distraction test, 18m-2.5y recognition test, >2.5y speech discrimination test, school pure tone audiometry)

Heart: observation, respiratory, femoral + brachial, cap refill, apex, hepatomegaly, thrills, murmur
Chest: sats, observation + symmetry, breath sounds
Abdomen: shape + palpation

Hip: barlow’s (pressure on adducted), ortolani’s (flexed hip and knee down pressure), ultrasound
All breech babies at 36w will need hip ultrasound for developmental dysplasia

Testes: symmetry, size, colour, palpate sac to inguinal canal (undescended usually in canal)

Back: inspect + palpate spine, check anus, ask about meconium

Reflexes: moro (drop, arms + legs out), suckling, rooting (tickling cheek), grasp, stepping