Hepatic dysfunction in Alström disease

Am J Med Genet. 1991 Sep 15;40(4):421-4. doi: 10.1002/ajmg.1320400408.


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.

Publication types

  • Case Reports

MeSH terms

  • Acanthosis Nigricans / genetics
  • Biopsy
  • Child
  • Deafness / genetics*
  • Diabetes Mellitus / genetics*
  • Diabetes Mellitus, Type 2 / genetics*
  • Diabetic Retinopathy / genetics*
  • Female
  • Hepatitis, Chronic / genetics*
  • Hepatitis, Chronic / pathology
  • Humans
  • Hyperlipidemias / genetics*
  • Obesity*
  • Syndrome