Seizure as the early and main manifestation of infantile vanishing white matter disease: A case report

Rezaei, N. and Nikbakht, S. and Ashrafi, M.-R. and Rezaei, Z. and Mahdieh, N. and Alizadeh, H. and Amanat, M. and Tavasoli, A.R. (2018) Seizure as the early and main manifestation of infantile vanishing white matter disease: A case report. Iranian Journal of Pediatrics, 28 (2).

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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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