A Case of Shwachman-Diamond Syndrome Presenting With Diabetes From Early Infancy

Abstract

hwachman-Diamond syndrome (SDS; OMIM 260400) is a rare autosomal recessive disorder characterized by pancreatic insufficiency, bone marrow failure, skeletal dysplasia, and short stature (1). Diabetes is a rare complication of SDS, and only a few SDS patients have been reported to develop diabetes (2-6). We report the first case of SDS with diabetes in which mutations of the SBDS gene have been identified.