A kid aged 18 months is being tested for neurologic regression. He had a typical newborn and early development track till the age of 5 months. The kid then had steady regression of developmental milestones, and he is now unable to sit without assistance, has poor head control, and has lost his social grin. Weight and height are both lower than the 5^th percentile. The physical examination reveals an enlarged liver and spleen, as well as decreased deep tendon reflexes in both limbs and hypotonia. The display includes funduscopic results. This patient most likely has an accumulation of which of the following substrates?

Question

Quizplus · Accepted Answer

Eductional Objective: Sphingomyelinase deficiency causes sphingomyelin buildup in Niemann-Pick disease. Hepatosplenomegaly, neurologic regression, and a cherry-red macular patch in infancy are all clinical characteristics.

A Kid Aged 18 Months Is Being Tested for Neurologic