Natural history of Alström syndrome in early childhood: onset with dilated cardiomyopathy.
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.
Michaud
J L
JL
Department of Genetics, Hospital for Sick Children, Toronto, Canada.
Héon
E
E
Guilbert
F
F
Weill
J
J
Puech
B
B
Benson
L
L
Smallhorn
J F
JF
Shuman
C T
CT
Buncic
J R
JR
Levin
A V
AV
Weksberg
R
R
Brevière
G M
GM
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