The Wilson Disease: A casereport

Authors

Nai-Chiung Huang
Ta-Sen Wei
Yen-Chung Chen
Wei-Chen Liang
Peng-Ta Liu

Translated Title

威爾森氏症：病例報告

Abstract

Wilson disease is a rare autosomal recessive inherited disorder of copper metabolism. The genetic defect, localized to chromosome arm 13q, has been shown to affect the copper-transporting adenosine triphosphatase gene. The major pathology is excessive deposition of copper in the liver, brain, and other tissues. The most common presenting neurological features are tremor, dystonia and ataxia that influence the motor control and gait. The diagnosis is confirmed by measurement of serum ceruloplasmin, urinary copper excretion and hepatic copper content as well as the detection of Kayser-Fleischer rings.The subject in our case study is a 25-year-old, female patient with Wilson disease. She was admitted due to tremor that resulted in increasingly difficult walking. While the patient was in the hospital, neutropenia and thrombocytopenia were the major complications due to the side-effects from the pharmacological treatments. The early intervention of rehabilitation programs was offered for the motor training as well as gait analysis.

Language

Traditional Chinese

DOI Link

https://doi.org/10.6315/2009.37(1)07

First Page

59

Last Page

65

Recommended Citation

Huang, Nai-Chiung; Wei, Ta-Sen; Chen, Yen-Chung; Liang, Wei-Chen; and Liu, Peng-Ta (2009) "The Wilson Disease: A casereport," Rehabilitation Practice and Science: Vol. 37: Iss. 1, Article 7.
DOI: https://doi.org/10.6315/2009.37(1)07
Available at: https://rps.researchcommons.org/journal/vol37/iss1/7