Microcephaly

Question 1

Causes of Microcephaly

Answer 1

A) Normal CNS

1. Familial - AR with Slant forehead
2. Normal Variant
3. Small relative trunk

B) Abnormal CNS
1. Prenatal 
Chromosomal disorders - Trisomy  
TORCH infections
Drugs - Fetal alcohol syn or Phenytoin
Maternal PKU
Irradiation
Hereditary Microcephaly - AR/ X-Link Recessive
Syndromes - Cornelia de Lange, Rubinstein Taybi, Crouzon

2. Prenatal
   Birth injury
   Neonatal CNS infections - Bacterial/ Viral
3. Posnatal
   Malnutrition
   Post head injury and CNS infections

Question 2

Steps in clinical examination in Microcephaly

Answer 2

Confirm with measurement first!

1. Examine head (Shape, Scar, evidence of increased ICP, feel for suture and fontanelle)
2. Examine face (Crouzon face, Dysmorphism, Eye - cataract, proptosis and optic atrophy)
3. Neurology and development- Spastic diplegia in XLR microcephaly
4. Limbs for Polysyndactyly (Cornelia de Lange/ R Taybi)
5. Measure parents heads’ sizes
6. If newborn - for for hepatosplenomegaly and rash