Abstract
Alström syndrome is among the rarest genetic disorders described in the medical literature.
It is characterized by retinal pigment degeneration, obesity, sensorineural deafness,
non-insulin-dependent diabetes mellitus, progressive chronic nephropathy, cardiomyopathy,
and hepatic dysfunction. Hepatic inflammation and fibrosis, which leads to cirrhosis,
portal hypertension, and liver failure, is the final pathway of the hepatopathy in
Alström syndrome. We report a case of Alström syndrome with particular emphasis on
hepatic findings.
Keywords
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Reference
- A rare case of Alström presenting with rapidly progressive severe dilated cardiomyopathy diagnosed by echocardiography.J Am Soc Echocardiogr. 2003; 16: 194-196
- Alström Syndrome in two siblings.J Formos Med Assoc. 2001; 100: 45-49
- Hepatic dysfunction in two sibs with Alström syndrome: case report and review of the literature.Am J Med Genet. 1997; 69: 13-16
- Refinement of genetic localization of the Alström Syndrome on chromosome2p 12.13 by linkage analysis in a North African family.Hum Genet. 1998; 103: 658-661
Article info
Publication history
Published online: April 28, 2008
Accepted:
February 22,
2008
Received:
January 15,
2008
Identification
Copyright
© 2008 Elsevier Inc. Published by Elsevier Inc. All rights reserved.
