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MRCPCH Part 2 > Miscellaneous > Flashcards

Miscellaneous Flashcards

1
Q

Cleft palate Epicanthic folds Short nose Anteverted nostrils Long philtrum with thin vermilion border Learning difficulties Congenital heart disease

A

Fetal valproate syndrome

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2
Q

Cleft palate Micrognathia Glossoptosis Airway obstruction

A

Pierre Robin syndrome

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3
Q

Cleft palate thin wiry hair Fiar skin Microdontia Developmental delay Urinary tract abnormalities

A

EEC syndrome (ectodermal dysplasia, ectrodactyly, cleft palate)

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4
Q

Haemoglobinopathy result in beta thalassaemia major

A

Minimal or absent HbA Small amount of HbA2 Large amount of HbF

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5
Q

X-ray features of Ewing’s tumour

A

Sunburst speculated periosteal reaction

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6
Q

Treatment of choice for pubic lice

A

Permethrin

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7
Q

Diagnosis?

A

Candlewax calcification

= tuberous sclerosis

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8
Q

Features of PELVIS syndrome

A

Perineal haemangiomas

External genital malformations

Lipomyelomeningocoele

Vesico-renal abnormalities

Imperforate anus

SKin tags

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9
Q

Diagnosis?

A

Intussusception

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10
Q

Presents as severe encephalopathy with myoclonic seizures, rapidly progressive, metabolic investigations all normal, often associated with hiccupping

A

Non ketotic hyperglycinaemia

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11
Q

Abnormalities to look for if hypospadias found

A

cryptorchidism

Chordee

Redundant dorsal hood

Inguinal herniae

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12
Q

Features of gelastic epilepsy

A

Seizures associated with laughing

Hypothalamic hamartoma or astrocytoma

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13
Q

Features of panayiotopoulos syndrome

A

Autonomic symptoms

Vomiting

2/3rds occur in sleep

Long lasting seizures

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14
Q

Features of PHACE syndrome

A

Posterior fossa abnormality

Haemangioma

Arterial lesions

Cardiac anomalies

Eye abnormalities

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15
Q

Threshold to give bicarbonate in DKA

A

pH ≤7

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16
Q

Features of Zellweger syndrome

A

Dysmorphic features

Sensorineural deafness

Peripheral neuropathy

Hepatocellular degeneration

Elevated very long chain fatty acids

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17
Q

Diagnosis if there is excess secretion of heparan and dermatan sulphates in urine

A

Mucopolysaccharidosis type 1

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18
Q

Features of linear morphea

A

Atrophic linear plaque

May have concomitant headaches or seizures

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19
Q

Antiepileptic causing cerebellar symptoms in toxicity

A

Phenytoin

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20
Q

Denys-Drash triad

A

Nephropathy

Interse genital abnormalities

Wilms’ tumour

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21
Q

Distinguishing feature between Bartter and Gitelman syndromes

A

Bartter - normal or high urinary calcium

Gitelman’s - low urinary calcium and magnesium

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22
Q

Features of Ellis van Creveld

A

Distal shortening of the limbs

Polydactyly

ASD

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23
Q

Features of Rothmund Thompson

A

Skin changes from 3 months: plaques of erythema and oedema, which gradually become hyperpigmented and telangiectatic, often in light sensitive areas

Short stature

Frontal bossing

Sparse hair with dystrophic nails

24
Q

Features of junctional epidermolysis bullosa

A

Severe blistering

Non-Herlitz - associated with pyloric atresia

25
Q

Features of epidermolysis bullosa simplex

A

Koebner - mild blistering with mucosal involvement, blisters from birth, involves hands and feet

Weber-cockayne - localised to hands and feet, presents when the child begins to walk

26
Q

Treatment for Menkes

A

Copper sulphate

27
Q

Treatment for adrenoleukodystrophy

A

Steroids for adrenal insufficiency

Diet low in very long chain fatty acids

Lorenzo’s oil

28
Q

In which genetic condition is allopurinol helpful?

A

Lesch-Nyhan

29
Q

Treatment for Wilson’s disease

A

D-penicillamine

Liver transplantation

30
Q

Mechanism of bosentan

A

Endothelin receptor antagonist

31
Q

Mechanism of action of sildenafil

A

PDE5 inhibitor

32
Q

Triad of Klippel-Trelauney

A

Port wine stain

Varicose veins

bone/soft tissue hypertrophy

33
Q

Mechanism of metoclopramide

A

Dopamine receptor antagonist with 5HT3 antagonist activity in high doses

34
Q

Mechanism of cyclizine

A

Antimuscarinic agent with some antihistamine activity

35
Q

Mechanism of nabilone

A

Cannabinoid receptor agonist

36
Q

Mechanism of ondansetron

A

5HT3 antagonist

37
Q

Inheritance of Angelman syndrome

A

Uniparental disomy

38
Q

Inheritance of tuberous sclerosis

A

Autosomal dominant

39
Q

Features of Hall-Pallister syndrome

A

pituitary absence

hypothalamic hamartoblastoma

postaxial polydactyly

nail dysplasia

bifid epiglottis

imperforate anus

anomalies of the heart, lungs, and kidney

40
Q

Features of holoprosencephaly

A

Most severe of neuronal migration defects

cyclopism or cebocephaly (hypotelorism plus fused nostrils) or occasionally a variety of chromosomal defects

42
Q

Urine that smells of sweaty feet

A

Isovaleric acidaemia

Glutaric acidaemia type II

43
Q

Urine that smells like a swimming pool

A

Hawkinsinuria

44
Q

Urine that smells like maple syrup

A

Maple syrup urine disease

45
Q

Urine that smells like boiled cabbage

A

Hypermethioninaemia or tyrosinaemia

46
Q

Urine that smells like hops

A

Oasthouse urine disease

47
Q

Urine that smells mousy/musty

48
Q

Urine that smells like rotting fish

A

Trimethylaminuria

50
Q

Features of Pyknodysostosis

A

Increased skeletal density

Postnatal short stature

Generalised hyperostosis

Short limbs

Deformed nails

51
Q

Features of Hallerman Streiff syndrome

A

Developmental delay

Ocular problems e.g. cataracts, nystagmus

Abnormal mandibular development

52
Q

TFTs in Hashimoto’s

A

Low T4, high TSH

53
Q

TFTs in Grave’s

A

High T4, low TSH

54
Q

Commonest cause of pneumonia in infants

A

Staphylococcal

55
Q

Most common syndrome associated with Pierre Robin

A

Stickler syndrome

MRCPCH Part 2 (24 decks)

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