%0 Journal Article
%T Niemann-Pick A/B Disease in a 13-Year-Old Child and Review of the Literature
%A Issam Taha
%A Ilham Tadmori
%A Moustapha Hida
%J Open Journal of Pediatrics
%P 907-913
%@ 2160-8776
%D 2023
%I Scientific Research Publishing
%R 10.4236/ojped.2023.136099
%X 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 ˇ°types
A and Bˇ±), and the second is due to defective functioning in the transport of cholesterol
(NPD ˇ°type Cˇ±). We report the case of a 13-year-old adolescent diagnosed with Niemann-Pick
A/B disease.
%K Nieman Pick
%K Splenomegaly
%K Hepatomegaly
%K Enzymatic Test
%U http://www.scirp.org/journal/PaperInformation.aspx?PaperID=129066