TITLE:
Niemann-Pick A/B Disease in a 13-Year-Old Child and Review of the Literature
AUTHORS:
Issam Taha, Ilham Tadmori, Moustapha Hida
KEYWORDS:
Nieman Pick, Splenomegaly, Hepatomegaly, Enzymatic Test
JOURNAL NAME:
Open Journal of Pediatrics,
Vol.13 No.6,
November
16,
2023
ABSTRACT: Niemann-Pick
disease (NPD) refers to a group of patients who have varying degrees of lipid storage
and foam cell infiltration in tissues, as well as overlapping clinical features,
including hepatosplenomegaly, insufficiency pulmonary and/or central nervous system
(CNS). Thanks to the pioneering work of Roscoe Brady and colleagues, we now know
that there are two distinct metabolic abnormalities that explain NPD. The first
is due to the deficient activity of the acid sphingomyelinase enzyme (ASM; NPD “types
A and B”), and the second is due to defective functioning in the transport of cholesterol
(NPD “type C”). We report the case of a 13-year-old adolescent diagnosed with Niemann-Pick
A/B disease.