Niemann-Pick Type C — RACP Paediatrics MCQ

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HardGenetics & MetabolicNiemann-Pick Type CRACP Paediatrics

A 4-year-old has hepatosplenomegaly, developmental regression, supranuclear vertical gaze palsy. Abnormal filipin staining. Diagnosis?

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Correct answer: D — Niemann-Pick disease type C

NPC: impaired cholesterol trafficking. Vertical gaze palsy + hepatosplenomegaly + regression. Abnormal filipin staining.

Reference: RACP – 2024 – Paediatric Curriculum: Metabolic Medicine