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



Rezaei N1 ; Nikbakht S1 ; Ashrafi MR1, 2 ; Rezaei Z1 ; Mahdieh N3 ; Alizadeh H4 ; Amanat M1, 5 ; Tavasoli AR1, 2
Authors

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.
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