Wilson′s disease with a rare presentation Resistant rickets

Authors

Tarakeswara Rao Pikala, Department of Pediatrics, Maharajah′s Institute of Medical Sciences, Vizianagaram, Andhra Pradesh, India
Venkata Siva Sankara Murty Yerramilli, Department of Pediatrics, Maharajah′s Institute of Medical Sciences, Vizianagaram, Andhra Pradesh, India
Madhusudhan Rao Karuparti, Department of Pediatrics, Maharajah′s Institute of Medical Sciences, Vizianagaram, Andhra Pradesh, India
K. Lakshmi Priyadarshani, Department of Pediatrics, Maharajah′s Institute of Medical Sciences, Vizianagaram, Andhra Pradesh, India

Abstract

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.

Recommended Citation

Pikala, Tarakeswara Rao; Yerramilli, Venkata Siva Sankara Murty; Karuparti, Madhusudhan Rao; and Priyadarshani, K. Lakshmi (2015) "Wilson′s disease with a rare presentation Resistant rickets," Indian Journal of Health Sciences and Biomedical Research KLEU: Vol. 8: Iss. 1, Article 14.
DOI: https://doi.org/10.4103/2349-5006.158242
Available at: https://kleijhsbr.researchcommons.org/journal/vol8/iss1/14

Pages

66

Last Page

67

Copyright

© 2015 Indian Journal of Health Sciences and Biomedical Research KLEU | Published by Wolters Kluwer – Medknow