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

  • Authors:
    • Guoen Cai
    • Xinming Huang
    • Qinyong Ye
    • Wenting Xiong
    • Qing Duan
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  • Published online on: November 24, 2016     https://doi.org/10.3892/etm.2016.3928
  • Pages: 349-351
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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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January-2017
Volume 13 Issue 1

Print ISSN: 1792-0981
Online ISSN:1792-1015

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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