[Alström-syndrome: a missed diagnosis with consequences].

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.

• Authors: F A M Baumeister, B Sadowski, T Schmitz, A Grübl
• Journal: Klinische Padiatrie (Klin Padiatr) 2003 Jul-Aug Vol. 215 Issue 4 Pg. 226-7 ISSN: 0300-8630 [Print] Germany
• Vernacular Title: Alström-Syndrom: Eine verkannte Diagnose mit Konsequenzen.
• PMID: 12929013 (Publication Type: Case Reports, English Abstract, Journal Article)

Topics

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