Advertisement

US, CT, and MR imaging of hepatic masses in Alström syndrome: a case report

      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

      To read this article in full you will need to make a payment

      Purchase one-time access:

      Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
      One-time access price info
      • For academic or personal research use, select 'Academic and Personal'
      • For corporate R&D use, select 'Corporate R&D Professionals'

      Subscribe:

      Subscribe to Clinical Imaging
      Already a print subscriber? Claim online access
      Already an online subscriber? Sign in
      Institutional Access: Sign in to ScienceDirect

      Reference

        • Makaryus AN
        • Popowski B
        • Kort Y
        • Mangion J
        A rare case of Alström presenting with rapidly progressive severe dilated cardiomyopathy diagnosed by echocardiography.
        J Am Soc Echocardiogr. 2003; 16: 194-196
        • Hung YJ
        • Jeng C
        • Pei D
        • Chou PI
        • Wu DA
        Alström Syndrome in two siblings.
        J Formos Med Assoc. 2001; 100: 45-49
        • Awazu M
        • Tanaka T
        • Sato S
        • Anzo M
        • Higuchi M
        • Yamazaki K
        • Matsuo N
        Hepatic dysfunction in two sibs with Alström syndrome: case report and review of the literature.
        Am J Med Genet. 1997; 69: 13-16
        • Macari F
        • Lautier C
        • Girardet A
        • Dadoun F
        • Darmon P
        • Dutour A
        • Renard E
        • Bouvagnet P
        • Claustres M
        • Oliver C
        • Grigorescu F
        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