seizure as the early and main manifestation of infantile vanishing white matter disease: a case report

Introduction: vanishing white matter disease (vwm) is considered as one of the most frequent types of inherited childhood leukoencephalopathies. various neurological and non-neurological manifestations have been reported in this type of leukodystrophy; however, seizures are rarely described in infantile type of vwm. case presentation: to patient is a 12 months old boy who experienced frequent seizures at 4th month of age. the seizures were resistant to anti-epileptic drugs and caused 3 periods of hospitalization. magnetic resonance imaging (mri) demonstrated demyelinating pattern and whole exome sequencing (wes) reported homozygous mutation (c.922g > a) in eif2b2 gene in exon 8 leading to an amino-acid substitution (p.val308met). conclusions: infantile onset of vanishing white matter disease can be considered as one of few childhood leukodystrophies that are associated with early onset seizures.