Alexander Disease 1례

A CASE OF ALEXANDER DISEASE

Alexander disease is a rare progressive dysmyelogenetic leukodystrophy of still unkown etiology clinically characterized by of megallencephaly, psychomotor retardation, spasticity and seizure. We experienced one case of Alexander disease in a 9 month old male infant. He was delivered by Caesarean section a 33 weeks gestational age with birth weight of 2. 15kg and birth head circumference 34cm. Between 4 months and 7months of age, his head circumference was abruptly increased and delayed motor milestone were appeared. On examination at admission at 9 months of his age, he had focal seizure, visual inattentiveness, spastic quadriparesis with marked head lag and extensor response on Babinski sign. Brain MRI showed abnormal signal intensities in deep white matter and subcortical white matter symmetrically, low densities in TWI and high signal in TWI. We tried brain biopsy and it showed diffuse deposition of Rosenthal fiber in white matter of frontal lobe. He was managed with phenytoin and phenobarbital due to subsequent generalized clonic seizure. After anticonvulsant therapy, the seizure was controlled. We report this case and the brief review of literature of Alexander lisease.