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Case Report

Wilson's disease patient with iron metabolism discharge barriers: A case report

  • Authors:
    • Guoen Cai
    • Xinming Huang
    • Qinyong Ye
    • Wenting Xiong
    • Qing Duan
  • View Affiliations / Copyright

    Affiliations: Department of Neurology, Fujian Medical University Union Hospital, Fuzhou, Fujian 350001, P.R. China, Department of Magnetic Resonance Imaging, Fujian Medical University Union Hospital, Fuzhou, Fujian 350001, P.R. China
  • Pages: 349-351
    |
    Published online on: November 24, 2016
       https://doi.org/10.3892/etm.2016.3928
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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.
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Copy and paste a formatted citation
Spandidos Publications style
Cai G, Huang X, Ye Q, Xiong W and Duan Q: Wilson's disease patient with iron metabolism discharge barriers: A case report. Exp Ther Med 13: 349-351, 2017.
APA
Cai, G., Huang, X., Ye, Q., Xiong, W., & Duan, Q. (2017). Wilson's disease patient with iron metabolism discharge barriers: A case report. Experimental and Therapeutic Medicine, 13, 349-351. https://doi.org/10.3892/etm.2016.3928
MLA
Cai, G., Huang, X., Ye, Q., Xiong, W., Duan, Q."Wilson's disease patient with iron metabolism discharge barriers: A case report". Experimental and Therapeutic Medicine 13.1 (2017): 349-351.
Chicago
Cai, G., Huang, X., Ye, Q., Xiong, W., Duan, Q."Wilson's disease patient with iron metabolism discharge barriers: A case report". Experimental and Therapeutic Medicine 13, no. 1 (2017): 349-351. https://doi.org/10.3892/etm.2016.3928
Copy and paste a formatted citation
x
Spandidos Publications style
Cai G, Huang X, Ye Q, Xiong W and Duan Q: Wilson's disease patient with iron metabolism discharge barriers: A case report. Exp Ther Med 13: 349-351, 2017.
APA
Cai, G., Huang, X., Ye, Q., Xiong, W., & Duan, Q. (2017). Wilson's disease patient with iron metabolism discharge barriers: A case report. Experimental and Therapeutic Medicine, 13, 349-351. https://doi.org/10.3892/etm.2016.3928
MLA
Cai, G., Huang, X., Ye, Q., Xiong, W., Duan, Q."Wilson's disease patient with iron metabolism discharge barriers: A case report". Experimental and Therapeutic Medicine 13.1 (2017): 349-351.
Chicago
Cai, G., Huang, X., Ye, Q., Xiong, W., Duan, Q."Wilson's disease patient with iron metabolism discharge barriers: A case report". Experimental and Therapeutic Medicine 13, no. 1 (2017): 349-351. https://doi.org/10.3892/etm.2016.3928
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