title: Natural history of Alström syndrome in early childhood: onset with dilated cardiomyopathy.
abstract: Alström 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.
authors.affiliation: Department of Genetics, Hospital for Sick Children, Toronto, Canada.
authors.forename: J L
authors.initials: JL
authors.lastname: Michaud
authors.forename: E
authors.initials: E
authors.lastname: Héon
authors.forename: F
authors.initials: F
authors.lastname: Guilbert
authors.forename: J
authors.initials: J
authors.lastname: Weill
authors.forename: B
authors.initials: B
authors.lastname: Puech
authors.forename: L
authors.initials: L
authors.lastname: Benson
authors.forename: J F
authors.initials: JF
authors.lastname: Smallhorn
authors.forename: C T
authors.initials: CT
authors.lastname: Shuman
authors.forename: J R
authors.initials: JR
authors.lastname: Buncic
authors.forename: A V
authors.initials: AV
authors.lastname: Levin
authors.forename: R
authors.initials: R
authors.lastname: Weksberg
authors.forename: G M
authors.initials: GM
authors.lastname: Brevière
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D015992:Body Mass Index; D002311:Cardiomyopathy, Dilated / Q000175:diagnosis*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis*; D006801:Humans; D008297:Male; D009765:Obesity / Q000175:diagnosis*; D012174:Retinitis Pigmentosa / Q000175:diagnosis*; D013577:Syndrome