Makino Yuki, Igura Takumi, Imai Yasuharu, Fukuda Kazuto, Sawai Yoshiyuki, Kogita Sachiyo, Uenoyama Naoto, Doi Yoshinori, Kiso Shinichi, Hiramatsu Naoki, Tamura Shinji, Hayashi Norio, Takehara Tetsuo
Department of Gastroenterology, Ikeda Municipal Hospital, Japan.
Nihon Shokakibyo Gakkai Zasshi. 2012 Jul;109(7):1223-9.
A 30-year-old man was admitted to Osaka University Hospital for the treatment of gastric varices and assessment of indication for liver transplant. When he was 6 years old, liver dysfunction was pointed out and diagnosed as chronic inactive hepatitis by liver biopsy. At 13 years of age, the second liver biopsy proved congenital hepatic fibrosis (CHF). The third liver biopsy was performed when he was 30 years old, and the progression of hepatic fibrosis was confirmed. Besides CHF, we recognized oligophrenia, cerebellar ataxia, hypoplasia of cerebellar vermis and coloboma, leading to the diagnosis of COACH syndrome. COACH syndrome is quite rare, and our case is especially valuable because he was diagnosed as an adult case and the progression of hepatic fibrosis could be followed through several liver biopsies. We should be aware of COACH syndrome in mind when we encounter CHF patients.
一名30岁男性因胃静脉曲张的治疗及肝移植适应证评估入住大阪大学医院。他6岁时被指出肝功能异常，经肝活检诊断为慢性非活动性肝炎。13岁时，第二次肝活检证实为先天性肝纤维化（CHF）。30岁时进行了第三次肝活检，证实肝纤维化有所进展。除了CHF外，我们还发现了智力发育迟缓、小脑共济失调、小脑蚓部发育不全和缺损，从而诊断为COACH综合征。COACH综合征非常罕见，我们的病例尤其有价值，因为他被诊断为成人病例，并且通过多次肝活检可以追踪肝纤维化的进展。当我们遇到CHF患者时，应牢记COACH综合征。
