Menkes disease presenting with epilepsia partialis continua.

Abstract

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.

• Authors: Tamer Rizk, Adel Mahmoud, Tahani Jamali, Salah Al-Mubarak
• Journal: Case reports in neurological medicine (Case Rep Neurol Med) Vol. 2014 Pg. 525784 ( 2014) ISSN: 2090-6668 [Print] United States
• PMID: 25506448 (Publication Type: Journal Article)