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Benign Familial Macrocephaly — RACP Paediatrics MCQ

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EasyNeurology & DevelopmentBenign Familial MacrocephalyRACP Paediatrics

A 2-year-old boy presents with macrocephaly, frontal bossing, and his fontanelle is still open. His developmental milestones are normal. His father has a large head circumference (>98th centile). CT brain is normal. What is the most likely diagnosis?

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Correct answer: D — Benign familial macrocephaly

Benign familial macrocephaly: large head circumference (often >98th centile) with normal development, normal imaging, and a family history of large head size. The anterior fontanelle may close late. No treatment is needed. Serial head circumference measurements should show a parallel growth curve.

Reference: RACP – 2024 – Paediatric Curriculum: Developmental Assessment