Connolly M B, Jan J E, Couch R M, Wong L T, Dimmick J E, Rigg J M
Division of Pediatric Neurology, University of British Columbia, Vancouver, Canada.
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.
阿尔斯特伦病是一种罕见的疾病;报道的病例不到20例。本文描述了一名患有此病的11岁女孩。她患有色素性视网膜病变、感音神经性耳聋、肥胖症、II型糖尿病、高脂血症和黑棘皮病。然而,除此之外,她还出现了肝功能障碍,病理上与慢性活动性肝炎相似。这可能是阿尔斯特伦病一种此前未被描述的进一步的全身表现。