title: Early-onset liver disease complicated with acute liver failure in Alstrom syndrome.
abstract: We report a case of Alstrom syndrome with evidence of extensive hepatic disease diagnosed at five years of age, who subsequently developed acute liver failure and died at eight years of age. Such a case, with the patient dying before the age of ten, has not been described before. The biochemical findings during our patient's liver failure raised the question of a possible mitochondrial function defect in this syndrome. Further investigation of this possibility is needed.
authors.affiliation: Department of Pediatrics, Division of Gastroenterology and Nutrition, UCLA Medical Center, 10833 Le Conte Ave., Los Angeles, CA 90095-1752, USA.
authors.forename: R E
authors.initials: RE
authors.lastname: Quiros-Tejeira
authors.forename: J
authors.initials: J
authors.lastname: Vargas
authors.forename: M E
authors.initials: ME
authors.lastname: Ament
mesh_terms: D000015:Abnormalities, Multiple / Q000503:physiopathology; D017668:Age of Onset; D002648:Child; D003920:Diabetes Mellitus / Q000151:congenital; D004211:Disseminated Intravascular Coagulation; D004392:Dwarfism; D017809:Fatal Outcome; D005260:Female; D006319:Hearing Loss, Sensorineural; D006501:Hepatic Encephalopathy; D006801:Humans; D022124:Hyperammonemia; D008107:Liver Diseases / Q000150:complications / Q000503:physiopathology*; D017114:Liver Failure, Acute / Q000150:complications / Q000175:diagnosis / Q000503:physiopathology*; D008930:Mitochondria, Liver; D009765:Obesity; D012162:Retinal Degeneration / Q000151:congenital; D013577:Syndrome; D014786:Vision Disorders / Q000151:congenital