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Cover page of the Journal of Health Sciences
CASE REPORT
Year : 2015  |  Volume : 8  |  Issue : 1  |  Page : 66-67

Wilson's disease with a rare presentation: Resistant rickets


Department of Pediatrics, Maharajah's Institute of Medical Sciences, Vizianagaram, Andhra Pradesh, India

Correspondence Address:
Dr. Tarakeswara Rao Pikala
Department of Pediatrics, No. 305, Aishwarya Residency, Baba Metta, Vizianagaram, Andhra pradesh
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2349-5006.158242

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Wilson's disease is a rare genetic disorder of copper metabolism. The basic genetic defect is a combination of reduced synthesis of ceruloplasmin and defective excretion of copper in the bile. Abnormal and toxic amount of copper are deposited in various tissues. Clinical manifestations in Wilson ' s diseases are protean and varied. We report a 13-year-old male child with knock-knee deformity, which progressed over 8 years without any other manifestations. High index of suspicion, meticulous examination, and relevant investigations confirmed Wilson's disease.


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