Hepatic dysfunction in Alström disease.
Alström disease is a rare disorder; less than 20 cases have been reported. An 11-year-old girl is described with this condition. She has pigmentary retinopathy, sensory neural deafness, obesity, Type II diabetes mellitus, hyperlipidemia, and acanthosis nigricans. However, in addition she developed hepatic dysfunction, pathologically similar to chronic active hepatitis. This may be a further, previously undescribed systemic manifestation of Alström disease.
Connolly
M B
MB
Division of Pediatric Neurology, University of British Columbia, Vancouver, Canada.
Jan
J E
JE
Couch
R M
RM
Wong
L T
LT
Dimmick
J E
JE
Rigg
J M
JM
D000052:Acanthosis Nigricans / Q000235:genetics; D001706:Biopsy; D002648:Child; D003638:Deafness / Q000235:genetics*; D003920:Diabetes Mellitus / Q000235:genetics*; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D003930:Diabetic Retinopathy / Q000235:genetics*; D005260:Female; D006521:Hepatitis, Chronic / Q000235:genetics* / Q000473:pathology; D006801:Humans; D006949:Hyperlipidemias / Q000235:genetics*; D009765:Obesity; D013577:Syndrome