Author/Authors :
Rezaei, Negin Children’s Medical Center - Pediatrics Center of Excellence - Tehran , Nikbakht, Sedighe Children’s Medical Center - Pediatrics Center of Excellence - Tehran , Ashrafi, Mahmoud-Reza Children’s Medical Center - Pediatrics Center of Excellence - Tehran , Rezaei, Zahra Children’s Medical Center - Pediatrics Center of Excellence - Tehran , Mahdieh, Nejat Iran University of Medical Sciences , Alizadeh, Houman Tehran University of Medical Science , Amanat, Man Children’s Medical Center - Pediatrics Center of Excellence - Tehran , Tavasoli, Ali Reza Children’s Medical Center - Pediatrics Center of Excellence - Tehran
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.
Keywords :
Leukodystrophy , Vanishing White Matter , Seizure , Epilepsy
