Niemann-Pick A/B Disease in a 13-Year-Old Child and Review of the Literature  

作　　者：Issam Taha Ilham Tadmori Moustapha Hida Issam Taha;Ilham Tadmori;Moustapha Hida(Pediatric Emergency Department, Faculty of Medicine and Pharmacy of Fez, Sidi Mohamed-Ben-Abdellah University, Fez, Morocco;Mother-Child Hospital, Hassan II University Hospital, Fez, Morocco)

机构地区：[1]Pediatric Emergency Department, Faculty of Medicine and Pharmacy of Fez, Sidi Mohamed-Ben-Abdellah University, Fez, Morocco [2]Mother-Child Hospital, Hassan II University Hospital, Fez, Morocco

出　　处：《Open Journal of Pediatrics》2023年第6期907-913,共7页儿科学期刊（英文）

摘　　要：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.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.

关 键 词：Nieman Pick SPLENOMEGALY HEPATOMEGALY Enzymatic Test 

分 类 号：R73[医药卫生—肿瘤]