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Updated: Apr 28, 2026

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
Published on: October 21, 2014
A distinct phenotype of childhood leukodystrophy presenting as absence seizure
Imad Mohammad Dweikat1, Nadera Damsah2, Reham Khalaf1
1Faculty of Medicine and Health Sciences, An-Najah National University, Nablus, Palestine.
Abstract:
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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