Niemann-Pick A/B Disease in a 13-Year-Old Child and Review of the Literature
Niemann-Pick A/B Disease in a 13-Year-Old Child and Review of the Literature作者机构：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
出 版 物：《Open Journal of Pediatrics》 (儿科学期刊（英文）)
年 卷 期：2023年第13卷第6期
页 面：907-913页
学科分类：1002[医学-临床医学] 100214[医学-肿瘤学] 10[医学]
主 题：Nieman Pick Splenomegaly Hepatomegaly Enzymatic Test
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.
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