Microcephaly Flashcards

1
Q

Causes of Microcephaly

A

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

Steps in clinical examination in Microcephaly

A

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
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