title: 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.affiliation: Pediatric Neurology Department, Al-Takhassusi Hospital, HMG, P.O. Box 365814, Riyadh 11393, Saudi Arabia ; Pediatric Neurology Department, National Neurosciences Institute, King Fahad Medical City, Riyadh, Saudi Arabia.
authors.forename: Tamer
authors.initials: T
authors.lastname: Rizk
authors.affiliation: Pediatric Neurology Department, National Neurosciences Institute, King Fahad Medical City, Riyadh, Saudi Arabia.
authors.forename: Adel
authors.initials: A
authors.lastname: Mahmoud
authors.affiliation: Pediatric Neurology Department, National Neurosciences Institute, King Fahad Medical City, Riyadh, Saudi Arabia.
authors.forename: Tahani
authors.initials: T
authors.lastname: Jamali
authors.affiliation: Pediatric Neurology Department, National Neurosciences Institute, King Fahad Medical City, Riyadh, Saudi Arabia ; Pediatric Neurology Division, University of Saskatchewan, Saskatoon, Canada.
authors.forename: Salah
authors.initials: S
authors.lastname: Al-Mubarak