Gaucher disease II：a case report
10.3969/j.issn.1000-3606.2014.03.024
- VernacularTitle:戈谢病II型患儿1例报告
- Author:
Meijuan WANG
;
Xuemei ZHONG
;
Xin MA
;
Yanling ZHANG
- Publication Type:Journal Article
- Keywords:
Gaucher disease;
glucocerebrosidase;
Gaucher cell
- From:
Journal of Clinical Pediatrics
2014;(3):287-288
- CountryChina
- Language:Chinese
-
Abstract:
Objectives To investigate the clinical characteristics and diagnosis of Gaucher disease. Methods The clini-cal features, enzyme activities and genetypes of an infant with Gaucher disease II were analyzed. Results The main clinical manifestations of the infant included hepatosplenomegaly, ocular dyscinesia and mental retardation. Gaucher′s cells could be seen in the bone marrow aspirates. Glucocerebrosidase activity was low (0.3 nmol/g/min). Serum chitotriosidase activity was high (87317 nmol/L/min). GBA mutations were M85T (c.371T>C) and R120W (c.475C>T). Conlusions Main features of Gau-cher disease II are hepatosplenomegaly with nerve system injury. Glucocerebrosidase activity and gene analysis are important for the diagnosis of Gaucher disease.
