Menkes Disease Presenting with Epilepsia Partialis Continua
Joint Authors
Rizk, Tamer
Mahmoud, Adel
Jamali, Tahani
Al-Mubarak, Salah
Source
Case Reports in Neurological Medicine
Issue
Vol. 2014, Issue 2014 (31 Dec. 2014), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2014-11-23
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Rizk, Tamer& Mahmoud, Adel& Jamali, Tahani& Al-Mubarak, Salah. 2014. Menkes Disease Presenting with Epilepsia Partialis Continua. Case Reports in Neurological Medicine،Vol. 2014, no. 2014, pp.1-5.
https://search.emarefa.net/detail/BIM-1017300
Modern Language Association (MLA)
Rizk, Tamer…[et al.]. Menkes Disease Presenting with Epilepsia Partialis Continua. Case Reports in Neurological Medicine No. 2014 (2014), pp.1-5.
https://search.emarefa.net/detail/BIM-1017300
American Medical Association (AMA)
Rizk, Tamer& Mahmoud, Adel& Jamali, Tahani& Al-Mubarak, Salah. Menkes Disease Presenting with Epilepsia Partialis Continua. Case Reports in Neurological Medicine. 2014. Vol. 2014, no. 2014, pp.1-5.
https://search.emarefa.net/detail/BIM-1017300
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1017300