A couple visits the clinic for preconception advice. Because they are of Ashkenazi Jewish origin, they are given genetic testing. Both are carriers for a lysosomal enzyme deficiency condition, which results in reduced metabolic breakdown of a phospholipid substrate to ceramide, resulting in phospholipid accumulation. They are advised about the possibility that their children would be afflicted by this condition. The couple is interested in learning about the clinical characteristics of a sick child. Which of the following results is most likely to be associated with this condition?

Question

Quizplus · Accepted Answer

Eductional Objective: Niemann-Pick disease is an autosomal recessive condition that affects the Ashkenazi Jewish community substantially more than the overall population. It is distinguished by a lack of sphingomyelinase and a buildup of sphingomyelin (phospholipid), which causes neurologic regression, hepatosplenomegaly, and retinal opacification (ie, cherry-red macula).

A Couple Visits the Clinic for Preconception Advice