[Progression of hepatic fibrosis observed by repeated liver biopsies in an adult case of COACH syndrome].
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.
Department of Gastroenterology, Ikeda Municipal Hospital, Japan. yuuki-makino@hosp.ikeda.osaka.jp
Yuki
Y
Makino
Takumi
T
Igura
Yasuharu
Y
Imai
Kazuto
K
Fukuda
Yoshiyuki
Y
Sawai
Sachiyo
S
Kogita
Naoto
N
Uenoyama
Yoshinori
Y
Doi
Shinichi
S
Kiso
Naoki
N
Hiramatsu
Shinji
S
Tamura
Norio
N
Hayashi
Tetsuo
T
Takehara
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000328:Adult; D001259:Ataxia / Q000175:diagnosis*; D001706:Biopsy; D001921:Brain / Q000002:abnormalities; D002779:Cholestasis / Q000175:diagnosis*; D003103:Coloboma / Q000175:diagnosis*; D018450:Disease Progression; D006801:Humans; D008099:Liver / Q000473:pathology*; D008103:Liver Cirrhosis / Q000151:congenital / Q000473:pathology*; D008107:Liver Diseases / Q000175:diagnosis*; D008297:Male