title: Living donor liver transplantation for Dorfman-Chanarin syndrome with 1 year follow-up: case report.
abstract: A 27-year-old Japanese man underwent liver transplantation because of uncompensated cirrhosis due to Dorfman-Chanarin syndrome (DCS). At birth, the patient displayed ichthyosis and liver dysfunction. Moreover, mental retardation appeared and intracytoplasmic vacuoles were observed within peripheral blood neutrophils. A fatty liver was also noticed, leading to the diagnosis of DCS. When he was referred to our hospital, his American Society of Anesthesiologists score was 3. The findings of computed tomography showed liver atrophy, splenomegaly, and ascites. The Child-Pugh score was B, and the Model for End-stage Liver Disease score was 14. The pathophysiology was DCS with uncompensated liver cirrhosis. Therefore, living donor liver transplantation (LDLT) was performed from the patient's brother. The histological appearance of the resected liver revealed macrovesicular steatosis in most hepatocytes with excess fibrous tissue in the portal areas. These findings were compatible with nonalcoholic steatohepatitis. Although the patient's mental retardation and characteristic appearance have not improved, good liver function has been maintained since LDLT. An outpatient protocol liver biopsy performed at 12 months after LDLT did not show recurrence of macrovesicular steatosis.
authors.affiliation: Department of Gastroenterological Surgery, Yokohama City University, Yokohama, Japan. kazutake@yokohama-cu.ac.jp
authors.forename: K
authors.initials: K
authors.lastname: Takeda
authors.forename: K
authors.initials: K
authors.lastname: Tanaka
authors.forename: T
authors.initials: T
authors.lastname: Kumamoto
authors.forename: D
authors.initials: D
authors.lastname: Morioka
authors.forename: I
authors.initials: I
authors.lastname: Endo
authors.forename: S
authors.initials: S
authors.lastname: Togo
authors.forename: H
authors.initials: H
authors.lastname: Shimada
mesh_terms: D000328:Adult; D001706:Biopsy; D005234:Fatty Liver / Q000209:etiology / Q000601:surgery; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000150:complications / Q000175:diagnosis / Q000601:surgery; D008052:Lipid Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis / Q000601:surgery; D008099:Liver / Q000473:pathology / Q000601:surgery*; D008103:Liver Cirrhosis / Q000175:diagnosis / Q000209:etiology / Q000601:surgery*; D008111:Liver Function Tests; D016031:Liver Transplantation; D019520:Living Donors; D008297:Male; D009135:Muscular Diseases / Q000150:complications / Q000175:diagnosis / Q000601:surgery; D013997:Time Factors; D014057:Tomography, X-Ray Computed; D016896:Treatment Outcome