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Year : 2014  |  Volume : 9  |  Issue : 1  |  Page : 63-65

A distinct phenotype of childhood leukodystrophy presenting as absence seizure

1 Faculty of Medicine and Health Sciences, An-Najah National University, Nablus, Palestine
2 Department of Pediatrics, Al-Makassed Islamic Charitable Society Hospital, Jerusalem, Israel

Correspondence Address:
Imad Mohammad Dweikat
Faculty of Medicine and Health Sciences, An-Najah National University, Nablus, West Bank
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/1817-1745.131492

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Leukoencephalopathy refers to any disease of the white matter including hereditary as well as acquired and toxic causes. Inherited leukodystrophies are diseases of myelin including abnormal myelin development, hypomyelination, or degeneration of myelin. We report a 6-year old female who presented with absence seizure at the age of 4 years. Cerebral magnetic resonance imaging (MRI) of the brain showed bilateral periventricular confluent high signal intensity. The seizure responded to anticonvulsant therapy, and the clinical course was characterized by normal development and neurological examination.


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