Natural history of Alström syndrome in early childhood: onset with dilated cardiomyopathy
Michaud, J.L.; Héon, E.; Guilbert, F.; Weill, J.; Puech, B.; Benson, L.; Smallhorn, J.F.; Shuman, C.T.; Buncic, J.R.; Levin, A.V.; Weksberg, R.; Brevière, G.M.
Journal of Pediatrics 128(2): 225-229
1996
ISSN/ISBN: 0022-3476 PMID: 8636816 Document Number: 459430
Alstrom syndrome is an autosomal recessive disorder characterized by cone-rod dystrophy, obesity, hearing impairment, and diabetes caused by insulin resistance. By reviewing the charts of eight patients followed 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 cardiomyopathy, 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 initially showed a severe cone impairment with mild (2/8) or no (6/8) rod involvement. Electroretinograms, obtained again at ages 9 to 22 years for four patients, revealed extinguished rod-and-cone responses. Obesity developed during childhood in seven patients, in at least three of them before age 2 years. Hearing impairment (5/8) and diabetes/glucose intolerance (4/8) were diagnosed at the end of the first decade or during the second decade. This constellation of features should facilitate early diagnosis of the syndrome.