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The first Japanese case of COACH syndrome
Author(s) -
Mitsui Fukiko,
Aikata Hiroshi,
Azakami Takahiro,
Katamura Yoshio,
Kimura Takashi,
Kawaoka Tomokazu,
Saneto Hiromi,
Takaki Shintaro,
Hiraga Nobuhiko,
Tsuge Masataka,
Waki Koji,
Hiramatsu Akira,
Imamura Michio,
Kawakami Yoshiiku,
Takahashi Shoichi,
Arihiro Koji,
Chayama Kazuaki
Publication year - 2009
Publication title -
hepatology research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.123
H-Index - 75
eISSN - 1872-034X
pISSN - 1386-6346
DOI - 10.1111/j.1872-034x.2008.00445.x
Subject(s) - medicine , portal hypertension , hypoplasia , esophageal varices , pediatrics , dysarthria , cirrhosis , ataxia , gastroenterology , surgery , radiology , psychiatry
COACH syndrome is a disorder characterized by hypoplasia of cerebellar vermis, oligophrenia, congenital ataxia, coloboma and hepatic fibrosis, and 21 cases have been reported to date. Here we describe the first Japanese case of COACH syndrome, who was diagnosed at the age of 37 years and never progressed to liver failure. The patient was found to have delayed developmental milestones at the age of 5 months and mental retardation at the age of 7 years. She had been treated for hepatopathy of unknown origin from the age of 22 years. She was admitted to Hiroshima University Hospital at the age of 37 years after the identification of esophageal varices on a routine upper endoscopy. Computed tomography of the abdomen revealed portal hypertension and splenomegaly, and liver biopsy showed liver fibrosis. In addition, she had coordination disorder and dysarthria. Brain magnetic resonance images revealed hypoplasia of cerebellar vermis. The final diagnosis was COACH syndrome. She underwent endoscopic injection sclerotherapy for esophageal varices. From that point until her death from ovarian cancer at the age of 41 years, the liver function tests were stable without an episode of hematemesis. Physicians should be aware of COACH syndrome when they examine young patients who present with hepatopathy, portal hypertension of unknown origin and cerebellar ataxia.