title: A case of adult onset type II citrullinemia with portal-systemic shunt.
abstract: A 48-year-old woman who had conscious disturbance and abnormal behaviors had been misdiagnosed as having hepatic encephalopathy due to hyperammonemia and portal-systemic shunt, and retrograde transvenous obliteration of the shunt did not improve her symptoms. Thereafter, analyses of plasma amino acids and citrin gene revealed a diagnosis of adult onset type II citrullinemia (CTLN2). She underwent auxiliary partial orthotopic liver transplantation (APOLT) using a left lobe graft from her brother, and her symptoms as well as hyperammonemia improved. Our case demonstrates the importance of CTLN2 as a differential diagnosis in patients with hyperammonemia and consciousness disturbance, even if they present with a portal-systemic shunt.
authors.affiliation: Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Science, Kanazawa, Ishikawa, Japan. d-noto@med.kanazawa-u.ac.jp
authors.forename: D
authors.initials: D
authors.lastname: Noto
authors.forename: K
authors.initials: K
authors.lastname: Takahashi
authors.forename: T
authors.initials: T
authors.lastname: Hamaguchi
authors.forename: K
authors.initials: K
authors.lastname: Inamura
authors.forename: K
authors.initials: K
authors.lastname: Nobata
authors.forename: M
authors.initials: M
authors.lastname: Yazaki
authors.forename: S
authors.initials: S
authors.lastname: Ikeda
authors.forename: K
authors.initials: K
authors.lastname: Kobayashi
authors.forename: M
authors.initials: M
authors.lastname: Yamada
mesh_terms: D020159:Citrullinemia / Q000175:diagnosis* / Q000473:pathology* / Q000628:therapy; D003072:Cognition Disorders / Q000150:complications; D003937:Diagnosis, Differential; D005260:Female; D006501:Hepatic Encephalopathy / Q000175:diagnosis; D006801:Humans; D022124:Hyperammonemia / Q000150:complications / Q000628:therapy; D008099:Liver / Q000473:pathology; D016031:Liver Transplantation; D008642:Mesenteric Veins / Q000002:abnormalities* / Q000601:surgery; D008875:Middle Aged; D014057:Tomography, X-Ray Computed; D054079:Vascular Malformations / Q000473:pathology* / Q000601:surgery; D014682:Vena Cava, Inferior / Q000002:abnormalities* / Q000601:surgery