Question

A 3-year-old boy presents with mental retardation and an inability to walk. The fundoscopy image is given below. What is the most likely diagnosis?

• A. Tay-Sachs disease
• B. Hunter disease
• C. Hurler syndrome
• D. Gaucher disease

Answer 1

The Correct Option is A

The patient's age and clinical presentation indicate a likely diagnosis. In considering the options provided, let's assess key features of each disease:

• Tay-Sachs disease: A genetic disorder often presenting in infants. Key symptoms include developmental delays and a characteristic 'cherry-red spot' on the macula seen during fundoscopy.
• Hunter disease and Hurler syndrome: Both are mucopolysaccharidoses, leading to developmental delay, but differ in symptoms. Fundoscopy typically doesn't reveal a cherry-red spot.
• Gaucher disease: A lysosomal storage disorder affecting organs but not typically associated with a cherry-red spot on fundoscopy.

Given the presentation of mental retardation and inability to walk, alongside the characteristic fundoscopy finding of a cherry-red spot, the most likely diagnosis is:

Tay-Sachs disease