Macrocephaly Flashcards

1
Q

Causes of Macrocephaly

A

A. CNS normal

  1. Familial big head
  2. Haemoglobinopathy - Thalassaemia
  3. Normal varient
  4. 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
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2
Q

Clinical examination of Macrocephaly

A
  1. 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)
  2. SPINE -Look for evidence of Spinal Bifida
  3. Neurological exam and mentality esp for ataxia diplegia
  4. Facial examination for Dysmorphic features, skin for rash and neurocutaneous sign (NF)
  5. Eyes - Vision
  6. Abdo - Scar, Organomegaly and Umbilical hernia (MPS)
  7. Measure parent’s head circumference

N.B. If big head with no Shunt - think NF and look for Cafe au lait spots!

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