Involuntary movement in an emotionally labile girl : Think of Wilson’s Disease
DOI:
https://doi.org/10.3329/bccj.v6i1.36615Keywords:
ATP7B, Dystonia, Kayser-Fleischer ring (K-F ring), Wilson’s Disease (WD)Abstract
Wilson’s Disease (WD) is a rare, autosomal recessive, inborn error of copper metabolism, which is caused by a mutation in the copper-transporting gene, ATP7B. The presentation is usually neurologic or hepatic or both, which is seen in 40% of the patients. The diagnosis depends primarily on the clinical features, the biochemical parameters and the presence of the Kayser – Fleischer ring. Here, we are reporting a 13 years old girl who was affected by Wilson’s disease, with both neurological manifestations & hepatic involvement.
Bangladesh Crit Care J March 2018; 6(1): 57-59
Downloads
27
34
Downloads
Published
How to Cite
Issue
Section
License
Upon acceptance for publication the copyright of the paper automatically transfers to the BCCJ and will not be published elsewhere either in part or whole without written permission of the copyright holder.
Except for personal use, no part of the materials published in this journal may be reproduced, stored in a retrieval system or transmitted in any form or by any means electronic, photocopying, recording or otherwise without the prior written permission of the publisher.