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


METHODS
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.
Baumeister
F A M
FA
Kinderklinik und Poliklinik der Technischen Universität München, Kinderklinik Schwabing, Munich. u7r11cf@mail.lrz-muenchen.de
Sadowski
B
B
Schmitz
T
T
Grübl
A
A
D001249:Asthma / Q000150:complications; D002648:Child; D002869:Chromosome Aberrations; D003638:Deafness / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D048909:Diabetes Complications; D003920:Diabetes Mellitus / Q000175:diagnosis / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D009765:Obesity / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D012162:Retinal Degeneration / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D013577:Syndrome