Seizure as the Early and Main Manifestation of Infantile Vanishing White Matter Disease: A Case Report

Abstract

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.

EIF2B2 gene mutation causing early onset vanishing white matter disease: a case report

“…The analysis in parents revealed the presence of this mutation in heterozygosis. This variant is very rare in the general population (0.000008122) and described by Zhang et al [ 12 ] in 2015 in heterozygosis with another mutation, while Rezaei et al [ 13 ] described the same mutation in homozygosis.…”

“…The case described by Rezaei et al is also characterized by early-onset seizures refractory to antiepileptic drugs. In this case a good control was obtained with the association of phenobarbital, topiramate, lamotrigine, and oxcarbazepine [ 13 ].…”

“…In this case a good control was obtained with the association of phenobarbital, topiramate, lamotrigine, and oxcarbazepine [ 13 ].…”