Natural history of Alström syndrome in early childhood: onset with dilated cardiomyopathy

J Pediatr. 1996 Feb;128(2):225-9. doi: 10.1016/s0022-3476(96)70394-3.

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.

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Body Mass Index
  • Cardiomyopathy, Dilated / diagnosis*
  • Child
  • Child, Preschool
  • Female
  • Hearing Loss, Sensorineural / diagnosis*
  • Humans
  • Male
  • Obesity / diagnosis*
  • Retinitis Pigmentosa / diagnosis*
  • Syndrome