Presentation and course of diabetes in children and adolescents with Alstrom syndrome.

Alstrom syndrome is characterized by childhood obesity, progressive retinal degeneration, and sensorineural hearing loss with diabetes mellitus (DM) developing later in childhood and adulthood. The course of diabetes in children with this condition has not been described. We aim to describe the diagnosis, management, and course of diabetes in a series of children followed in our center. A retrospective chart review of all seven children with Alstrom syndrome was performed. Patients, aged 4.5-22 yr, had typical features of Alstrom syndrome. Five were diagnosed with DM at a median age of 11.5 yr. At diagnosis of DM, mean fasting blood glucose (FBG) was normal at 82.8 ± 12.6 mg/dL (4.6 ± 0.7 mmol/L), but random or oral glucose tolerance test (OGTT) values were > 200 mg/dL (11.1 mmol/L). Two patients had periods of poor control despite high-dose insulin and show better A1C, off insulin and with other therapy. In our series, DM in Alstrom syndrome begins by age 14 yr. At diagnosis of DM, FBG was normal. Hence the diagnosis may be missed if screening is performed with FBG alone. We conclude that OGTT should be considered annually from age 6 to 7 yr and in established DM, if glycemic control is poor on insulin, escalating doses may not be effective.