Passmed

Question 1

Prader Willi syndrome

Answer 1

Genetic imprinting
Prader-Willi: if gene deleted from father
Angelman syndrome if gene deleted from mother

Chromosome 15

Features: hypotonia during infancy, dysmorphic features, short stature, hypogonadism and infertility, learning difficulties, childhood obesity, behavioural problems in adolescence

Question 2

Androgen Insensitivity Syndrome

Answer 2

X-linked recessive condition
End organ resistance to testosterone - genotypically male children (46XY) to have female phenotype

Features: primary amenorrhoea, undescended testes causes groin swellings, breast development may occur (conversion of testosterone to oestradiol)

Counselling, bilateral orchidectomy, oestrogen therapy

Question 3

Meningitis ACWY vaccine

Answer 3

Replaced men C vaccine for 13-18 year olds
Offered to new students (up to age 25) at university

GP practices invite 17 and 18 year olds in year 13 at school
Students should ideally contact their GP about getting the vaccination before freshers

Question 4

Fragile X syndrome

Answer 4

Trinucleotide repeat disorder
Features in males: learning difficulties, large low set ears, long thin face and high arched palate, hypotonia, macroorchidism, autism more common, mitral valve prolapse

Features in females (who have one fragile X chromosome) vary from normal to mild

Diagnosis can be made by CVS / amnio

Question 5

Kocher criteria for the diagnosis of Septic Arthritis

Answer 5

Fever > 38.5
Non weight-bearing
Raised ESR
Raised WCC

Question 6

Abdominal migraines

Answer 6

Diagnosed clinically when all red flags have been ruled out
Episodic abdo pain which lasts over an hour. Patient is well inbetween episodes. Episodes interfere with normal daily life and cause nausea, vomiting, anorexia and pallor
Usually personal / FH of migraine
Education, rest, simple analgesics, sumatriptan.
Preventative tx includes pizotifen and propranolol

Question 7

Ambiguous genitalia

Answer 7

Most common cause in newborns is congenital adrenal hyperplasia

Other causes:
True hermaphroditism
Maternal ingestion of androgens

Question 8

Ebstein’s anomaly

Answer 8

Congenital heart defect
Low insertion of the tricuspid valve - large atrium and small ventricle

Associations:
Tricuspid incompetence: pansystolic murmur, giant V waves in JVP
WPW syndrome

*May be caused by exposure to lithium in vitro

Question 9

Infantile spasms

Answer 9

Type of epilepsy
Typically presents at 4-8 months, more common in males
Features: flexion of the head, trunk and arms followed by extension of the arms, last 1-2 seconds but up to 50 times, progressive mental handicap

Poor prognosis. Vigabatrin first line. ACTH also used.

Question 10

Achondroplasia

Answer 10

Autosomal dominant
Mutation in the fibroblast growth factor receptor 3 gene-results in abnormal cartilage
Rhizomelia and brachydactyly, large head with frontal bossing and narrow foramen magnum, midface hypoplasia with flattened nasal bridge, trident hand, lumbar lordosis

Question 11

Fetal Alcohol Syndrome

Answer 11

Babies may show features of alcohol withdrawal at birth e.g. irritable, hypotonic, tremors

Features: short palpebral fissure, thin vermillion border / hypoplastic upper lip, smooth / absent filtrum, learning difficulties, microcephaly, growth retardation, epicanthic folds

Question 12

William’s syndrome

Answer 12

Inherited neurodevelopmental disorder caused by microdeletion on chromosome 7

Features: elfin like facies, very friendly and social, learning difficulties, short stature, transient neonatal hypercalcaemia, supravalvular aortic stenosis

Dx made by FISH studies

Question 13

Ureteric Reflux grading

Answer 13

I - Reflux into the ureter only, no dilation
II - Reflux into the renal pelvis on micturition, no dilation
III - mild / moderation dilation of the ureter, renal pelvis and calyces
IV - dilation of the renal pelvis and calyces with moderate ureteral tortuosity
V - gross dilation of the ureter, pelvis and calyces with ureteral tortuosity

Question 14

Cephalohaematoma

Answer 14

Swelling on a newborns head
Typically develops several hours after delivery and is due to bleeding between the periosteum and the skull
Most commonly affects parietal region

Jaundice may develop

May take up to 3 months to resolve

Question 15

Patau (Trisomy 13)

Answer 15

Microcephalic, small eyes
Cleft lip / palate
Polydactyly
Scalp lesions

Question 16

Edward’s (Trisomy 18)

Answer 16

Micrognathia
Low set ears
Rocker bottom feet
Overlapping of fingers

Question 17

Choanal atresia

Answer 17

Congenital
Posterior nasal airway occluded by soft tissue or bone
Associated with other congenital malformations e.g. coloboma
Babies with unilateral disease may go unnoticed
Bilateral disease presents early in life as they are obligate mouth breathers
Fenestration procedures

Question 18

Innocent murmurs

Answer 18

Ejection murmurs, venous hums (continuous blowing noise just below clavicles), Still’s murmur (low pitched LLSE)

Characteristics: soft blowing murmur in pulmonary area or short buzzing murmur in aortic area, may vary with posture, localised with no radiation, no diastolic component, no thrill, no added sounds, asymptomatic, no other abnormality

Question 19

Roseola infantum

Answer 19

HHV6
Incubation period of 5-15 days
Typically affects children aged 6 months to 2 years

Features: high fever followed by maculopapular rash (typically starts on trunk before spreading to limbs, not itchy), febrile convulsions, diarrhoea and cough

Other possible consequences - hepatitis and meningitis

Question 20

Erythema infectiosum

Answer 20

Parvovirus B19
‘Slapped cheek syndrome’ - spreads to proximal arms and extensor surfaces
Lethargy, fever, headache

Question 21

Noonan syndrome

Answer 21

Webbed neck
Pectus excavatum
Short stature
Pulmonary stenosis

Question 22

Hirschsprung’s disease

Answer 22

Absence of ganglion cells from mesenteric and submucosal plexus
1/5000
Full thickness rectal biopsy for dx
Delayed passage of meconium and abdo distention
Tx with rectal washouts initially and then with anorectal pull through procedure

Question 23

Neonatal Resus

Answer 23

Dry baby, maintain temp and start clock
Assess tone, breathing and HR
5 inflation breaths
Reassess
Check chest position to make sure inflation breaths were successful
If chest moving but still no HR / < 60 start chest compressions at 3:1
Reassess every 30s

Question 24

DiGeorge Syndrome

Answer 24

Autosomal dominant
Deletion of part of chromosome 22

C ardiac abnormalities 
A bnormal facies
T hymic aplasia
C left palate
H ypocalcaemia / hypoparathyroidism 
22 - caused by chromosome 22 deletion