The parents of 6-month-old are alarmed at the apparent regression of their child's pyschomotor skills. The infant has had difficulty in feeding accompanied by recurrent vomiting. Examination reveals a protuberant abdomen with clear hepatosplenomegaly. Extremities are thin and emaciation is apparent. Opthalmologic examination reveals cherry-red maculae. Histochemical examination of the monocytic fraction of the plasma demonstrates the presence of lipid-laden foam cells engorged with sphingomyelin. These findings are indicative of which of the following disorders?

Question

Quizplus · Accepted Answer

The symptoms and findings, including cherry-red maculae, hepatosplenomegaly, and lipid-laden foam cells with sphingomyelin, are characteristic of Niemann-Pick disease type A1.

The Parents of 6-Month-Old Are Alarmed at the Apparent Regression