Tay-Sachs — RACP Paediatrics MCQ

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ModerateGeneticsTay-SachsRACP Paediatrics

A 6-month-old has progressive hypotonia, exaggerated startle, regression, cherry-red spot on fundoscopy. No organomegaly. Macrocephaly. What is the diagnosis?

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Correct answer: E — Tay-Sachs disease

Hypotonia, hyperacusis, regression, cherry-red spot, macrocephaly without organomegaly = Tay-Sachs (hexosaminidase A deficiency). Uniformly fatal infantile form.

Reference: RACP Paediatric Curriculum – Metabolic/Genetics