A 17-Month-Old Boy Is Being Evaluated for Neurologic Regression

A 17-month-old boy is being evaluated for neurologic regression.  He had a normal neonatal course and early development until age 5 months.  The boy subsequently experienced gradual regression of developmental milestones, and now has inability to sit with support, poor head control, and loss of a social smile.  Weight and height are below the 5^th percentile.  Physical examination shows an enlarged liver and spleen, diminished deep tendon reflexes in all limbs, and hypotonia. Funduscopic reveals cherry-red macular spot. This patient most likely has an accumulation of which of the following substrates?

A) Cerebroside sulfate
B) Galactocerebroside
C) Globotriaosylceramide
D) Glucocerebroside
E) GM2 ganglioside
F) Sphingomyelin

Correct Answer:

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