Tay-Sachs Disease — RACP Paediatrics MCQ

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HardNeurology & DevelopmentTay-Sachs DiseaseRACP Paediatrics

A 9-month-old infant presents with developmental regression, an exaggerated startle response to noise, and a cherry-red spot on fundoscopy. Hexosaminidase A activity is absent. What is the diagnosis?

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Correct answer: B — Tay-Sachs disease

Tay-Sachs disease is a GM2 gangliosidosis caused by deficiency of hexosaminidase A. It presents in infancy with developmental regression, hyperacusis (exaggerated startle), progressive neurological deterioration, and a characteristic cherry-red spot on the macula. It is an autosomal recessive condition most common in Ashkenazi Jewish populations. There is no curative treatment.

Reference: RACP – 2024 – Paediatric Curriculum: Metabolic Medicine