Menkes Disease Presenting with Epilepsia Partialis Continua
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)...
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| Format: | Article |
| Language: | English |
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Wiley
2014-01-01
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| Series: | Case Reports in Neurological Medicine |
| Online Access: | http://dx.doi.org/10.1155/2014/525784 |
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| _version_ | 1849305643722211328 |
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| author | Tamer Rizk Adel Mahmoud Tahani Jamali Salah Al-Mubarak |
| author_facet | Tamer Rizk Adel Mahmoud Tahani Jamali Salah Al-Mubarak |
| author_sort | Tamer Rizk |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-06f90afb63ff4e9d849c74175e1f967a |
| institution | Kabale University |
| issn | 2090-6668 2090-6676 |
| language | English |
| publishDate | 2014-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Neurological Medicine |
| spelling | doaj-art-06f90afb63ff4e9d849c74175e1f967a2025-08-20T03:55:23ZengWileyCase Reports in Neurological Medicine2090-66682090-66762014-01-01201410.1155/2014/525784525784Menkes Disease Presenting with Epilepsia Partialis ContinuaTamer Rizk0Adel Mahmoud1Tahani Jamali2Salah Al-Mubarak3Pediatric Neurology Department, Al-Takhassusi Hospital, HMG, P.O. Box 365814, Riyadh 11393, Saudi ArabiaPediatric Neurology Department, National Neurosciences Institute, King Fahad Medical City, Riyadh, Saudi ArabiaPediatric Neurology Department, National Neurosciences Institute, King Fahad Medical City, Riyadh, Saudi ArabiaPediatric Neurology Department, National Neurosciences Institute, King Fahad Medical City, Riyadh, Saudi ArabiaAim. 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.http://dx.doi.org/10.1155/2014/525784 |
| spellingShingle | Tamer Rizk Adel Mahmoud Tahani Jamali Salah Al-Mubarak Menkes Disease Presenting with Epilepsia Partialis Continua Case Reports in Neurological Medicine |
| title | Menkes Disease Presenting with Epilepsia Partialis Continua |
| title_full | Menkes Disease Presenting with Epilepsia Partialis Continua |
| title_fullStr | Menkes Disease Presenting with Epilepsia Partialis Continua |
| title_full_unstemmed | Menkes Disease Presenting with Epilepsia Partialis Continua |
| title_short | Menkes Disease Presenting with Epilepsia Partialis Continua |
| title_sort | menkes disease presenting with epilepsia partialis continua |
| url | http://dx.doi.org/10.1155/2014/525784 |
| work_keys_str_mv | AT tamerrizk menkesdiseasepresentingwithepilepsiapartialiscontinua AT adelmahmoud menkesdiseasepresentingwithepilepsiapartialiscontinua AT tahanijamali menkesdiseasepresentingwithepilepsiapartialiscontinua AT salahalmubarak menkesdiseasepresentingwithepilepsiapartialiscontinua |