Hepatic insufficiency and liver transplantation in a patient with COACH syndrome.
An 8-yr-old-patient was diagnosed with COACH syndrome at the moment of her first bleeding episode from esophageal varices. Investigations revealed biliary cirrhosis as the cause of portal hypertension, no visible kidney cyst or impairment of renal function, cerebellar dysplasia with non-disabling ataxia, and minimal mental retardation. By the age of 12 yr she had developed liver insufficiency and, after a challenging discussion, underwent a liver transplantation. She subsequently developed an abdominal aspergillosis, which required several abdominal explorations and splenectomy as well as 6 months of therapy with liposomal amphotericin B, but survived and in long-term follow-up is in good health, with completed puberty, and has finished school.
Herzog
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D
Division of Gastroenterology and Nutrition, Department of Pediatrics, Sainte Justine Hospital, University of Montreal, 3175 Côte Sainte Justine, Montreal H3T 1C5, Canada.
Martin
S
S
Yandza
T
T
Alvarez
F
F
D000015:Abnormalities, Multiple; D002524:Cerebellar Ataxia; D002648:Child; D005260:Female; D006801:Humans; D008607:Intellectual Disability; D008103:Liver Cirrhosis / Q000601:surgery*; D011183:Postoperative Complications; D013577:Syndrome