Seizure as the Early and Main Manifestation of Infantile Vanishing White Matter Disease: A Case Report
| Author | Negin Rezaei | en |
| Author | Sedighe Nikbakht | en |
| Author | Mahmoud-Reza Ashrafi | en |
| Author | Zahra Rezaei | en |
| Author | Nejat Mahdieh | en |
| Author | Houman Alizadeh | en |
| Author | Man Amanat | en |
| Author | Ali Reza Tavasoli | en |
| Issued Date | 2018-04-30 | en |
| 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. | en |
| DOI | https://doi.org/10.5812/ijp.65620 | en |
| Keyword | Leukodystrophy | en |
| Keyword | Vanishing White Matter | en |
| Keyword | Seizure | en |
| Keyword | Epilepsy | en |
| Publisher | Brieflands | en |
| Title | Seizure as the Early and Main Manifestation of Infantile Vanishing White Matter Disease: A Case Report | en |
| Type | Case Report | en |
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