• Xiaoli Du, Qian Ding, Qi Chen, Pengxiang Guo, and Qing Wang.
• Department of Hematology, Gui Zhou Provincial People's Hospital.
• Medicine (Baltimore). 2018 Nov 1; 97 (47): e13161e13161.

RationaleGaucher disease (GD), characterized by glucosylceramide accumulation in the macrophage-monocyte system, is caused by glucosidase b acid (GBA) gene mutations which lead to the deficiency of lysosomal enzyme glucocerebrosidase. The mutation spectrum of GBA in Chinese patients is quite different from those seen in Jewish and non-Jewish Caucasian patients. Thus, it is relatively hard to diagnose GD in Chinese.Patient ConcernsA 24-year-old Chinese female with intermittent abdominal distension and progressive decrease in strength but without neurologic symptoms was initially referred for femoral head necrosis on the right feet. Laboratory examinations results indicated panhematopenia. Bone marrow aspiration smear and biopsy specimen found typical "wrinkled" Gaucher cells. Molecular-genetic testing of GBA gene revealed 3 mutations including R159W (c. 475 C > T), V1230G (c. 689T > G), and G241A (c. 721G > A).DiagnosesOn the basis of these findings and clinical manifestations, the final diagnosis of type 1 GD was made.InterventionsEnzyme replacement therapy (ERT) with velaglucerase α was carried out after the diagnosis of type 1 GD.OutcomesThe platelet and hemoglobin levels were restored by ERT.LessonsTo our knowledge, this is the first report of GD patient carrying 3 mutations in Chinese. These mutations in GBA in the present case imply a potential pool of patients with GD with this mutation in Chinese.

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