Alstrom syndrome with hepatic dysfunction: report of one case.
Alstrom syndrome is a rare autosomal recessive disorder associated with early childhood retinopathy, progressive sensorineural hearing loss, truncal obesity, and acanthosis nigricans. We report a 10-year-old boy with Alstrom syndrome presenting with general malaise and abnormal liver function for 1 year. In addition to the above mentioned features, he also had hyperglycemia and hyperinsulinemia. The mechanism responsible for the persistent elevation of liver enzymes could not be identified. To the best of our knowledge, this is the first-reported case of Alstrom syndrome with hepatic dysfunction in Taiwan.
Chang
K W
KW
Department of Pediatric Gastroenterology, Chang Gung Children's Hospital, Taoyuan, Taiwan.
Hou
J W
JW
Lin
S J
SJ
Kong
M S
MS
D000052:Acanthosis Nigricans / Q000503:physiopathology*; D002648:Child; D006319:Hearing Loss, Sensorineural / Q000503:physiopathology*; D006801:Humans; D008099:Liver / Q000503:physiopathology*; D008297:Male; D009765:Obesity / Q000503:physiopathology*; D012164:Retinal Diseases / Q000503:physiopathology*; D013577:Syndrome