EAS Publisher | Rare Pathological Entity: Niemann Pick Disease in Adults, about a Case

Rare Pathological Entity: Niemann Pick Disease in Adults, about a Case

DOI : https://doi.org/10.36344/ccijmb.2025.v07i03.005

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Niemann Pick is a rare lysosomal storage metabolic disease. It is a sphingomyelin-cholesterol lipidosis associated with the accumulation of foamy cells, inherited in an autosomal recessive manner. It is divided into 3 main types (A/B, C). The biological diagnosis of type A/B relies on the enzymatic assay of acid sphingomyelinase, while that of type C is based on the search for plasma oxysterols which serves as the initial screening test, confirmed by genetic testing. The differential diagnosis consists of excluding other lysosomal diseases (Gaucher, Wolman).

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