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[Alström-syndrome: a missed diagnosis with consequences]
F A M Baumeister1, B Sadowski, T Schmitz
1Kinderklinik und Poliklinik der Technischen Universität München, Kinderklinik Schwabing, Munich. u7r11cf@mail.lrz-muenchen.de
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.