title: Improved quality of life and unchanged magnetic resonance brain imaging after living donor liver transplantation for late-onset ornithine transcarbamylase deficiency: report of a case.
abstract: We report the case of a 7-year-old girl with ornithine transcarbamylase deficiency whose quality of life (QOL) improved greatly after a living donor liver transplantation (LDLT). Ornithine transcarbamylase deficiency had been diagnosed when she was 2 years old and she finally underwent LDLT, with her father as the donor, when she was 7 years old. The patient had suffered episodes of hyperammonemic encephalopathy ranging from lethargy to coma, treated by hemodialysis twice before LDLT, and her intelligence quotient was borderline for her age. Preoperative magnetic resonance imaging (MRI) showed an atrophic area in the subcortical white matter of the frontal lobe. After LDLT, the patient suffered acute rejection with hyperamylasemia, but not hyperammonemia. Postoperative MRI and quantitative MR spectroscopy showed no changes in the subcortical lesion. She has been followed up carefully for 16 months and has had no further complications or any sign of hyperammonemia.
authors.affiliation: Division of Advanced Surgical Science and Technology, Tohoku University, 1-1 Seiryo-machi, Sendai, 980-8574, Japan.
authors.forename: Naoki
authors.initials: N
authors.lastname: Kawagishi
authors.forename: Kazushige
authors.initials: K
authors.lastname: Satoh
authors.forename: Yoshitaka
authors.initials: Y
authors.lastname: Enomoto
authors.forename: Yorihiro
authors.initials: Y
authors.lastname: Akamatsu
authors.forename: Satoshi
authors.initials: S
authors.lastname: Sekiguchi
authors.forename: Akira
authors.initials: A
authors.lastname: Satoh
authors.forename: Keisei
authors.initials: K
authors.lastname: Fujimori
authors.forename: Yuhei
authors.initials: Y
authors.lastname: Takasago
authors.forename: Tetsuya
authors.initials: T
authors.lastname: Ito
authors.forename: Toshihiro
authors.initials: T
authors.lastname: Ohura
authors.forename: Susumu
authors.initials: S
authors.lastname: Satomi
mesh_terms: D001284:Atrophy; D001921:Brain / Q000473:pathology*; D002648:Child; D005260:Female; D006801:Humans; D016031:Liver Transplantation; D019520:Living Donors; D008279:Magnetic Resonance Imaging; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000601:surgery*; D011788:Quality of Life