Macrocephaly Flashcards
1
Q
Causes of Macrocephaly
A
A. CNS normal
- Familial big head
- Haemoglobinopathy - Thalassaemia
- Normal varient
- Disproportionally large head compares to body (IUGR, Preterm bb)
B. Abnormal CNS 1. Increase brain substance - Megaencephaly Neurofibromatosis (NF) Mucopolysaccharidosis (MPS) Achondroplasia 2. SOL (Subdural effusion, brain tumor) 3. Increase CSF (Hydrocephalus) 4. Sotos Syndrome
2
Q
Clinical examination of Macrocephaly
A
- HEAD
a. Inspection - for size and shape of head (preterm), surgical scar, dilated veins/ sunset eye/ squint (Hydrocephalus) and cataract (MPS)
b. Measure head circumference
c. Palpate for fontanelle size and tension, suture separation and V-P shunt
d. Translumination - >2.5cm diameter is significant (Unilateral - Subdural effusion; Posterior - Dandy Walker) - SPINE -Look for evidence of Spinal Bifida
- Neurological exam and mentality esp for ataxia diplegia
- Facial examination for Dysmorphic features, skin for rash and neurocutaneous sign (NF)
- Eyes - Vision
- Abdo - Scar, Organomegaly and Umbilical hernia (MPS)
- Measure parent’s head circumference
N.B. If big head with no Shunt - think NF and look for Cafe au lait spots!