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- Title
A Case of Adult Type 1 Gaucher Disease Complicated by Temporal Intestinal Hemorrhage.
- Authors
Ito, Junitsu; Saito, Takafumi; Numakura, Chikahiko; Iwaba, Akiko; Sugahara, Shinpei; Ishii, Rika; Sato, Chikako; Haga, Hiroaki; Okumoto, Kazuo; Nishise, Yuko; Watanabe, Hisayoshi; Ida, Hiroyuki; Hayasaka, Kiyoshi; Togashi, Hitoshi; Kawata, Sumio; Ueno, Yoshiyuki
- Abstract
A 21-year-old man with a history of sudden rectal hemorrhage was referred to our hospital. Examination disclosed thrombocytopenia and hepatosplenomegaly. A liver biopsy specimen demonstrated Gaucher cells in Glisson's capsule. Additional investigations revealed a low level of leukocyte β-glucosidase activity and common mutations of the glucocerebrosidase gene, L444P/D409H. We diagnosed the patient with Gaucher disease type 1. He underwent enzyme replacement therapy. Thrombocytopenia and hepatosplenomegaly improved at a rate of approximately 50 and 20%, respectively, within 6 months. This case suggests that we must pay attention to adult Gaucher disease as a differential diagnosis for cryptogenic thrombocytopenia. © 2013 S. Karger AG, Basel
- Publication
Case Reports in Gastroenterology, 2013, Vol 7, Issue 2, p340
- ISSN
1662-0631
- Publication type
Article
- DOI
10.1159/000354725