Gen Paeds

Question 1

Causes of macrocephaly

Answer 1

BIG BONES
- achondroplasia
- rickets
- OI
- Haemolytic anaemia

BIG BRAIN
- Cerebral tumour/abscess
- SDH
- Sotos
- Neurocutaneous eg NF, TS, SWS
- Metabolic: Tay Sachs, MPS

BIG SPACES (hydrocephalus)
- Aqueductal stenosis
- Posterior fossa tumour, Arnold Chiari malformation
- Reduced CSF absorption due to SAH, meningitis, leukaemia
- Increased CSF production eg choroid plexus papilloma

Question 2

Differentials for microcephaly

Answer 2

1. Malformations: holoprosencephaly, lishencephaly
2. Chromosomal: trisomies
3. Hereditary: AR/AD microcephaly, SWS, NF1, TS
4. Syndrome eg Cornelia de Lange, Aicardi, Angelman, Fanconi, Smith Lemli Opitaz, Retts
5. Infection eg TORCH, encephalitis, meningitis
6. Trauma: asphyxia, head injury
7. Endocrine: hypothyroidism, hypopit
8. Maternal: DM, PKU, Fetal alcohol syndrome
9. Malnutrition

Question 3

Milestones at 6 weeks

Answer 3

GM: raise head to 45degrees, stabilise head when raised to sitting
FM: fixes and follows
Speech: startles to loud noises
Social: social smile

Question 4

Milestones at 3months

Answer 4

GM: bears weight on legs with support
FM: hands to midline, reaches out for toys
Speech: coos
Social: smiles spontaneously

Question 5

Milestones at 6months

Answer 5

GM: sites without support (rounded back), rolls prone to supine
FM: palmar grasp, transfer hand-hand
Speech: turns to sound, monosyllabic babble (eg bababa)
Social: puts object in mouth, shakes rattle, reaches for breast/bottle

Question 6

9month milestones

Answer 6

GM: sits unsupported (straight back)
FM: inferior pincer grip, object permanence
Speech: responds to own name, starts using dada and mama
Social: stranger fear, holds/bites food

Question 7

Static causes of global developmental delay

Answer 7

• Cerebral malformations
• Chromosomal disorders
• Intrauterine infection
• Antenatal toxins (alcohol, valproate, phenytoin)

Question 8

Degenerative causes of Global Developmental Delay

Answer 8

Metabolic things eg
- Tay Sachs, GM1, GM2 gangliosidoses
- Niemann Pick
- Metachromatic leukodystrophy
- Adrenoleukodystrophy (X-L)
- Krabbe

Question 9

Causes of isolated speech delay

Answer 9

Hearing impairment
Infantile autism

Question 10

Causes of isolated motor delay?

Answer 10

Hypotonia
Neuromuscular disorders
Ataxia
Hemiplegia, paraplegia

Question 11

Causes of hemihypertrophy

Answer 11

• Beckwith Wiedemann Syndrome
• Russel Silver Syndrome
• McCune Albright
• Proteus syndrome

Question 12

Causes of clinodactyly

Answer 12

• T21
• Russel Silver Syndrome
• Rubenstein-Taybi
• Cornelia de Lange
• Prader Willi syndrome

Question 13

Causes of a short 4th metacarpal

Answer 13

• Pseudohypoparathyroidism
• Turners
• Fetal Alcohol Syndrome

Question 14

Causes of a simian crease

Answer 14

• T21
• Cornelia de Lange
• Pallister Hall syndrome

Question 15

Causes of micropthalmos

Answer 15

CHARGE
Congenital rubella syndrome

Question 16

Causes of hypertelorism

Answer 16

• Noonan syndrome
• Williams syndrome
• Sotos syndrome
• Waardenburg syndrome

Question 17

Causes of epicanthic folds

Answer 17

• Noonan syndrome
• Turner syndrome
• Williams syndrome
• T21

Question 18

Trisomy 21 dysmorphology

Answer 18

Upslanting palpebral fissures
Epicanthic folds
Flat nasal bridge
Low set small ears
Protruding tongue
Brachycephaly
Short neck with excessive skin

Hypotonia
Wide spaced nipples

Simian crease
Sandal gap

Question 19

Differential diagnosis for coarse facial features?

Answer 19

IEMs - MPS, gangliosidosis
Acromegaly
Beckwith Wiedemann syndrome

Question 20

Features of fanconi anaemia

Answer 20

• BM failure
• skin: hypo/hyperpigmentation, cafe au lait
• short stature
• radius/ thumb abnormalities
• renal anomalies incl horseshoe, absent kidneys
• microcephaly, triangular face, short webbed neck

Question 22

Features of Stickler syndrome?

Answer 22

Myopia, retinal detachment
Cleft palate (either alone or as part of PRS with Micrognathia and glossoptosis)
SNHL
Flat midface with depressed nasal bridge, anteverted nares
Joint hypermobility
Arthritis

Question 23

Features of Russel Silver Syndrome?

Answer 23

Macrocephaly with frontal bossing and triangular jaw
Small height (and IUGR)
Clinodactyly
Cafe au lait macules, sparse subcutaneous tissue
Asymmetry/ hemihypertrophy
Developmental delay
Downturned corners of mouth and blue sclera (sometimes)

Question 24

Features of Bardet Biedl syndrome

Answer 24

Short and obese
Eye - retinitis pigmentosa: night blindness, tunnel vision, retinal pigment changes,
Polydactyly and/or brachydactyly
Hypogonadism
Renal dysfunction (incl DI)
ID

Question 25

Indications for growth hormone

Answer 25

Short stature associated with GH deficiency, Turners syndrome, Prader-Willi syndrome, cranial irradiation/pituitary surgery
Male >15 or female >13.5 and bone age >10.5 and velocity <25th %ile over past 6 months

Question 26

What is normal linear growth?

Answer 26

From age 6, 6cm per year until puberty

Question 27

Causes of sole hepatomegaly

Answer 27

Infection:
- Hep A, B, C
- Neonatal sepsis, E coli UTI
- Congenital syphilis
- Hydatid, schistosomoiasis

Malignant
- Hepatoblastoma, hepatocellular ca
- Mets from Wilms, NBL, gonadal ca

Metabolic
- GSD type 1,3 4,6
- Hereditary fructose intolerance
- Galactosemia
- Fructosemia
- Urea cycle defects
- FAODs

Liver/ biliary
- A1AT
- Chronic active hepatitis
- EHBA, choledochal cyst
- Alagille
- Wilsons disease
- Hepatic hepatoma (trauma)

Cardiac

Question 28

Causes of sole splenomegaly

Answer 28

Infection
- Sepsis
- Typhoid
- Subacute bacterial endocarditis

Haem
- Hereditary spherocytosis
- G6PD deficiency

Splenic
- Cyst
- Hamartoma
- Haemaoma (Eg due to trauma)

Portal hypertension
- Infra-hepatic
- Hepatic (ie due to cirrhosis)
- Suprahepatic (Budd-Chiari)

Question 29

Causes of hepatosplenomegaly

Answer 29

Infection
- EBV, CMV, Torch
- Malaria

Malignant
- Leukaemia, lymphoma

Haem
- Thalassemia
- Sickle cell disease

Metabolic
- LSDs eg gauchers, MPS, Niemann Pick

Inflammatory
- JIA, SLE

Other
- Congenital hepatofibrosis

Question 30

What is the gold standard assessment tool for autism diagnosis?

Answer 30

Autism Diagnostic Observation Schedule (ADOS)