NATURAL-HISTORY OF ALSTROM-SYNDROME IN EARLY-CHILDHOOD - ONSET WITH DILATED CARDIOMYOPATHY

Alstrom syndrome is an autosomal recessive disorder characterized by c one-rod dystrophy, obesity, hearing impairment, and diabetes caused by insulin resistance. By reviewing the charts of eight patients followe d for periods of 2 to 22 years, we established the natural history of this syndrome during childhood. Five patients, in four families, were seen between the ages of 3 weeks and 4 months with a dilated cardiomyo pathy, a previously unrecognized feature of the syndrome. Photophobia and nystagmus were first documented in the eight patients between the ages of 5 months and 15 months. In all patients, electroretinography i nitially showed a severe cone impairment with mild (2/8) or no (6/8) r od involvement. Electroretinograms, obtained again at ages 9 to 22 yea rs for four patients, revealed extinguished rod-and-cone responses, Ob esity developed during childhood in seven patients, in at least three of them before age 2 years. Hearing impairment (5/8) and diabetes/gluc ose intolerance (4/8) were diagnosed at the end of the first decade or during the second decade. This constellation of features should facil itate early diagnosis of the syndrome.