title: Liver transplantation in neurological Wilson's Disease: is there indication? A case report.
abstract: Wilson's disease (WD) is an autosomal recessive disorder characterized by copper overload. In this disease, inadequate hepatic excretion leads to copper accumulation in the liver, brain, kidney, and cornea. Severe neurological symptoms can develop in patients with WD, often in the absence of relevant liver damage: it is unclear whether liver transplantation (LT) could reverse neurological symptoms, and at present LT is not recommended in this setting. We report a case of regression of neurological symptoms in a patient affected by WD with prevalent neurological involvement. A 19-year-old man with disabling neuropsychiatric symptoms from WD that included frontal ataxia, akinesia, dystonia, tremors, and behavioral disorders in the presence of preserved liver function (Model for End-Stage Liver Disease score=7; Child-Turcotte-Pugh score=A5) underwent LT in November 2009. At the time of LT, encephalic magnetic resonance imaging (MRI) indicated diffuse neurodegenerative alterations involving subtentorial and supratentorial structures; bilateral Kayser-Fleischer ring was present. Four years after LT, laboratory tests show normalized copper metabolism and excellent liver function test results. Encephalic MRI shows a substantial improvement of already-known signal alterations at nuclei thalamus and putamen, mesencephalon, and pons. Kayser-Fleischer ring disappeared from the right eye, but a little remnant is still visible in the left eye. At neurological examination, all of the previous symptoms and signs are no longer present and behavioral disorders are no longer present; psychosocial functions are completely restored. The present case provides some evidence that LT may be a valid therapeutic option for WD patients with marked neurological impairment, particularly in those no longer responsive to chelation therapy.
authors.affiliation: Hepatobiliary and Abdominal Transplantation Surgery, Polytechnic University of Marche, Ancona, Italy. Electronic address: federicomocchegiani@hotmail.com.
authors.forename: F
authors.initials: F
authors.lastname: Mocchegiani
authors.affiliation: Clinic of Gastroenterology, Hepatology and Digestive Endoscopy, Department of Gastroenterology and Transplantation, Polytechnic University of Marche, Ancona, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Gemini
authors.affiliation: Hepatobiliary and Abdominal Transplantation Surgery, Polytechnic University of Marche, Ancona, Italy.
authors.forename: P
authors.initials: P
authors.lastname: Vincenzi
authors.affiliation: Hepatobiliary and Abdominal Transplantation Surgery, Polytechnic University of Marche, Ancona, Italy.
authors.forename: R
authors.initials: R
authors.lastname: Montalti
authors.affiliation: Hepatobiliary and Abdominal Transplantation Surgery, Polytechnic University of Marche, Ancona, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Vecchi
authors.affiliation: Hepatobiliary and Abdominal Transplantation Surgery, Polytechnic University of Marche, Ancona, Italy.
authors.forename: D
authors.initials: D
authors.lastname: Nicolini
authors.affiliation: Hepatobiliary and Abdominal Transplantation Surgery, Polytechnic University of Marche, Ancona, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Federici
authors.affiliation: Hepatobiliary and Abdominal Transplantation Surgery, Polytechnic University of Marche, Ancona, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Coletta
authors.affiliation: Hepatobiliary and Abdominal Transplantation Surgery, Polytechnic University of Marche, Ancona, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Pansini
authors.affiliation: Hepatobiliary and Abdominal Transplantation Surgery, Polytechnic University of Marche, Ancona, Italy.
authors.forename: J
authors.initials: J
authors.lastname: Lanari
authors.affiliation: Clinic of Gastroenterology, Hepatology and Digestive Endoscopy, Department of Gastroenterology and Transplantation, Polytechnic University of Marche, Ancona, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Svegliati Baroni
authors.affiliation: Department of Surgery and Transplantation, University of Udine, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Risaliti
authors.affiliation: Hepatobiliary and Abdominal Transplantation Surgery, Polytechnic University of Marche, Ancona, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Vivarelli
mesh_terms: D002570:Ceruloplasmin / Q000032:analysis; D003300:Copper / Q000097:blood; D006527:Hepatolenticular Degeneration / Q000150:complications / Q000175:diagnosis / Q000601:surgery*; D006801:Humans; D007668:Kidney / Q000473:pathology; D008111:Liver Function Tests; D016031:Liver Transplantation; D008279:Magnetic Resonance Imaging; D008297:Male; D055815:Young Adult
chemical_list: D003300:Copper; D002570:Ceruloplasmin