leukodystrophy

Journal Title, Volume, Page:

J Pediatr Neurosci. 2014 Jan-Apr; 9(1): 63–65. doi:10.4103/1817-1745.131492

Year of Publication:

2014

Link:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4040039/

Authors:

Imad Mohammad Dweikat

Department of Medicine, Faculty of Medicine and Health Sciences, An-Najah National University, Nablus, Palestin

Current Affiliation:

Department of Medicine, Faculty of Medicine and Health Sciences, An-Najah National University, Nablus, Palestin

[email protected]

Nadera Damsah

Department of Pediatrics, Al-Makassed Islamic Charitable Society Hospital, Jerusalem

Reham Khalaf

Preferred Abstract (Original):

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.

An-Najah Staff

A Distinct Phenotype of Childhood Leukodystrophy Presenting as Absence Seizure