title: Wilson's disease patient with iron metabolism discharge barriers: A case report.
abstract: Wilson's disease (WD) is an autosomal genetic disease. In the present study, the patient was a 35-year-old woman who exhibited drinking bucking (bulbar paralysis) and dysphagia for a period of nine years. Genetic analysis of the patient identified the Thr935Met and Pro992Leu mutations, which lead to copper metabolism discharge barriers. Moreover, magnetic resonance imaging revealed a susceptibility-weighted imaging (SWI) hyperintense area in the bilateral substantia nigra and lenticular nuclei. These SWI observations indicated that 'mineral deposits' were present. The present case demonstrates that the SWI hyperintense area in the bilateral lenticular nuclei, substantia nigra and red nucleus combined with the patient's symptoms indicated that there is a possibility to diagnose WD when it is not detected by genetic analysis. In addition, it demonstrates that systemic mineral removal treatment (including manganese, iron and copper) may be successful for the initial treatment of WD.
authors.affiliation: Department of Neurology, Fujian Medical University Union Hospital, Fuzhou, Fujian 350001, P.R. China.
authors.forename: Guoen
authors.initials: G
authors.lastname: Cai
authors.affiliation: Department of Magnetic Resonance Imaging, Fujian Medical University Union Hospital, Fuzhou, Fujian 350001, P.R. China.
authors.forename: Xinming
authors.initials: X
authors.lastname: Huang
authors.affiliation: Department of Neurology, Fujian Medical University Union Hospital, Fuzhou, Fujian 350001, P.R. China.
authors.forename: Qinyong
authors.initials: Q
authors.lastname: Ye
authors.affiliation: Department of Neurology, Fujian Medical University Union Hospital, Fuzhou, Fujian 350001, P.R. China.
authors.forename: Wenting
authors.initials: W
authors.lastname: Xiong
authors.affiliation: Department of Magnetic Resonance Imaging, Fujian Medical University Union Hospital, Fuzhou, Fujian 350001, P.R. China.
authors.forename: Qing
authors.initials: Q
authors.lastname: Duan
keywords: Wilson's disease; compound heterozygous mutation; iron metabolism; susceptibility-weighted imaging