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

Abstract

Shwachman-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. A 15-month-old Japanese girl was born uneventfully to a healthy mother after 36 weeks gestation. Pregnancy was complicated by intrauterine growth retardation. Her parents are nonconsanguineous. There was no family history of inherited disorders. The birth weight was 1,530 g (−2.4 SD) and length was 41.0 cm (−2.5 SD). After birth, she developed respiratory distress syndrome and pulmonary hemorrhage. Neutropenia was noted from the neonatal period, and a bone marrow examination revealed a maturation arrest of myelopoiesis. After 3 weeks of age, she developed postprandial hyperglycemia with >200 mg/dl in blood glucose. The treatment with insulin was not begun because of normal insulin response in the oral glucose tolerance test performed at the age of 3 months. At 5 months of age, her weight was 2,950 g (−5.2 SD) and length was 51.0 cm (−4.1 SD). At 15 …