[Alström-syndrome: a missed diagnosis with consequences]

Klin Padiatr. 2003 Jul-Aug;215(4):226-7. doi: 10.1055/s-2003-41397.
[Article in German]

Abstract

Background: Alström-syndrome (OMIM: 203 800) is a rare disease with autosomal recessive inheritance. Characteristic features are retinal degeneration, truncal obesity, diabetes mellitus and sensorineural hearing loss. Further variable symptoms include chronic hepatitis and asthma.

Case report: A patient with asthma associated with retinal degeneration is presented. The investigations demonstrated truncated obesity, sensorineural deafness and impaired glucose tolerance and Alstrom-syndrome was diagnosed. She received hearing aids, diabetes training and is regularly reinvestigated for further manifestations of Alström-syndrome.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Asthma / complications
  • Child
  • Chromosome Aberrations*
  • Deafness / complications*
  • Deafness / diagnosis
  • Deafness / genetics
  • Diabetes Complications*
  • Diabetes Mellitus / diagnosis
  • Diabetes Mellitus / genetics
  • Female
  • Genes, Recessive
  • Humans
  • Obesity / complications*
  • Obesity / diagnosis
  • Obesity / genetics
  • Retinal Degeneration / complications*
  • Retinal Degeneration / diagnosis
  • Retinal Degeneration / genetics
  • Syndrome