Early detection of severe cholestatic hepatopathy in COACH syndrome.

摘要: COACH syndrome is a disorder with cerebellar vermis hypoplasia, oligophrenia, ataxia, coloboma, and hepatic fibrosis. Sixteen cases certain diagnosis have been reported so far. Neurologic abnormalities are the first symptoms in most cases. The majority of were diagnosed late childhood or adolescence. Complications hepatopathy contribute extensively to morbidity lethality course disease. Major complications portal hypertension, esophageal varices, gastrointestinal bleeding. We report child only mild neurologic symptoms, but severe fibrosis cholangiopathy, review literature. This description profound cholestatic very young syndrome. patient was found unilateral optical nerve dysmorphic signs, ventricular septum defect. Routine laboratory investigations eventually revealed elevated liver enzymes. Prothrombin time abnormal. Ultrasound scan normal. Hepatotropic viral infections excluded. performed biopsy at age 16 months, confirming an early stage cirrhosis septal pseudolobules, inflammatory infiltrates, signs cholestasis, reduced numbers intrahepatic bile ducts. Early detection differentiation pathology important Progressive destructive cholangiopathy may Liver disease can be even deficits.