Macro/Microcephaly

Question 1

Differentials Microcephaly

Answer 1

Defect in brain development
- T21, holoprosencephaly, Angelman, Fanconi, Rubenstein-Taybi

Prenatal

• TORCH infection
• Fetal alcohol syndrome
• Maternal PKU

Postnatal

• HIE
• Infection (HSV meningitis)
• Trauma
• Malnutrition
• Metabolic
• Endocrine: hypothyroid, hypopituitarism
• Familial

Question 2

Differentials Macrocephaly

Answer 2

Normal variant
Familial
Genetic: NF1, TS, Fragile X, Sotos, Noonan 
Fluid: Hydrocephalus 
Bone: achondroplasia, OI, Rickets
Metabolic: MPS