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Successful combined liver and kidney transplant for COACH syndrome and 5‐yr follow‐up
Author(s) -
Uemura Tadahiro,
Sanchez Edmund Q,
Ikegami Toru,
Watkins David,
Narasimhan Gomathy,
McKenna Greg J,
Chinnakotla Srinath,
Dawson Sherfield,
Randall Henry B,
Levy Marlon F,
Goldstein Robert M,
Klintmalm Goran B
Publication year - 2005
Publication title -
clinical transplantation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.918
H-Index - 76
eISSN - 1399-0012
pISSN - 0902-0063
DOI - 10.1111/j.1399-0012.2005.00409.x
Subject(s) - medicine , cirrhosis , ataxia , congenital hepatic fibrosis , portal hypertension , abnormality , kidney , pediatrics , kidney disease , encephalopathy , gastroenterology , surgery , psychiatry
The COACH syndrome is a very rare disorder with cerebellar vermis hypoplasia, oligophrenia, ataxia, coloboma, and hepatic fibrosis. Nineteen cases with COACH diagnosis have been reported. Neurologic abnormalities are the first symptoms in most cases. Complications of the hepatopathy [portal hypertension, esophageal varices, and gastrointestinal (GI) bleeding] contribute extensively to the morbidity and lethality in the course of the disease. We describe a 28‐yr‐old female with COACH syndrome resulting in chronic renal and hepatic insufficiency. The patient was found to have significant mental retardation, truncal ataxia, motor abnormality and occulomotor abnormality. She began to develop GI bleeding and encephalopathy because of biopsy‐confirmed cirrhosis. We performed combined liver and kidney transplant after challenging discussion. Her postoperative course was uneventful, and she was discharged on the ninth postoperative day (POD). She has not had any problems at 1, 3 and 5‐yr follow‐up with excellent liver and renal function. This is the first description of successful combined liver and kidney transplant with long‐term follow‐up. The decision for transplant is challenging because COACH syndrome is rare with only descriptive characterization and patients have non‐progressive ataxia and mental retardation. However, our case shows that liver and kidney transplant can be medically successful, and the individuals achieve long‐term success if they have a stable neurological condition and an excellent support system.