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



Rezaei N¹ ; Nikbakht S¹ ; Ashrafi MR^{1, 2} ; Rezaei Z¹ ; Mahdieh N³ ; Alizadeh H⁴ ; Amanat M^{1, 5} ; Tavasoli AR^{1, 2} Show Affiliations
Source: Iranian Journal of Pediatrics Published:2018

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 demyeli-nating 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. © 2018, Iranian Journal of Pediatrics.