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Case Reports in Neurological Medicine
Volume 2014 (2014), Article ID 525784, 5 pages
Case Report

Menkes Disease Presenting with Epilepsia Partialis Continua

1Pediatric Neurology Department, Al-Takhassusi Hospital, HMG, P.O. Box 365814, Riyadh 11393, Saudi Arabia
2Pediatric Neurology Department, National Neurosciences Institute, King Fahad Medical City, Riyadh, Saudi Arabia
3Pediatric Neurology Division, University of Saskatchewan, Saskatoon, Canada

Received 14 May 2014; Revised 4 November 2014; Accepted 10 November 2014; Published 23 November 2014

Academic Editor: Isabella Laura Simone

Copyright © 2014 Tamer Rizk et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Aim. We aim to describe a female patient with Menkes disease who presented with epilepsia partialis continua. Case Presentation. Seventeen-months-old Saudi infant was presented with repetitive seizures and was diagnosed to have epilepsia partialis continua. Discussion. Menkes disease (OMIM: 309400) is considered a rare, X-linked recessive neurodegenerative disorder resulting from a mutation in the gene coding for the copper transporting ATPase (ATP7A). Affected individuals usually present with kinky hair, skeletal changes, prolonged jaundice, hypothermia, developmental regression, decreased tone, spasticity, weakness, and therapy resistant seizures. Conclusion. Raising awareness of abnormal presentation of this rare disease may help in the control of seizures through subcutaneous copper supplementation.