A severely retarded infant is noted to have hepatosplenomegaly and a cherry-red spot in the macula. Of the following, which is most likely the cause of these findings?
Niemann-Pick Disease is an autosomal recessive disorder that results from defects in acid sphingomyelinase. Types A and B are distinguished by an early age of onset and progressive CNS disease in type A. Type A typically has onset in the first 6 months, with rapidly progressive CNS deterioration, spasticity, failure to thrive, and massive hepatosplenomegaly.A cherry-red spot in the macula is noted in about 30% of patients. Tay-Sach's Disease (defective hexosaminidase A) is associated with psychomotor retardation and a cherry-red spot, but no hepatosplenomegaly. Macular Degeneration and a cherry-red spot are NOT pa of the clinical picture of Gaucher's disease, metachromatic leukodystrophy, or globoid-cell leukodystrophy. Ref: Hopkin R., Grabowski G.A. (2012). Chapter 361. Lysosomal Storage Diseases. In D.L. Longo, A.S. Fauci, D.L. Kasper, S.L. Hauser, J.L. Jameson, J. Loscalzo (Eds), Harrison's Principles of Internal Medicine, 18e.
Tay-Sachs disease
Niemann-Pick disease
Gaucher's disease
Metachromatic leukodystrophy