A Couple Visits the Clinic for Preconception Advice

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?

A) Abnormally shaped bones and corneal clouding
B) Coarse facial features and cardiac dysfunction
C) Neuropathic pain and angiokeratomas
D) Retinal opacification and splenomegaly
E) Small stature and infertility

Correct Answer:

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