Microcephaly Flashcards
1
Q
Causes of Microcephaly
A
A) Normal CNS
- Familial - AR with Slant forehead
- Normal Variant
- 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
- Prenatal
Birth injury
Neonatal CNS infections - Bacterial/ Viral - Posnatal
Malnutrition
Post head injury and CNS infections
2
Q
Steps in clinical examination in Microcephaly
A
Confirm with measurement first!
- Examine head (Shape, Scar, evidence of increased ICP, feel for suture and fontanelle)
- Examine face (Crouzon face, Dysmorphism, Eye - cataract, proptosis and optic atrophy)
- Neurology and development- Spastic diplegia in XLR microcephaly
- Limbs for Polysyndactyly (Cornelia de Lange/ R Taybi)
- Measure parents heads’ sizes
- If newborn - for for hepatosplenomegaly and rash