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.