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Vigabatrin-Associated Brain Magnetic Resonance Imaging Abnormalities in Two Children With WW domain-containing

Hyoung Won Choi1, Laura Davids2, Kartik Reddy3

  • 1Division of Neurology, Department of Pediatrics, Emory University School of Medicine, Atlanta, Georgia.

Pediatric Neurology
|December 24, 2025
PubMed

Insights

WWOX gene variants cause epileptic encephalopathy. Vigabatrin treatment in affected children showed specific brain abnormalities on MRI, termed vigabatrin-associated brain abnormalities on magnetic resonance imaging (VABAM).

Area of Science:

  • Neuroscience
  • Genetics
  • Pediatric Neurology

Background:

  • Biallelic pathogenic variants in the WW domain-containing oxidoreductase (WWOX) gene are linked to WWOX-related epileptic encephalopathy.
  • WWOX-related epileptic encephalopathy presents with severe neurological symptoms including drug-resistant epilepsy and developmental delay.

Purpose of the Study:

  • To report vigabatrin-associated brain abnormalities on magnetic resonance imaging (VABAM) in two children with WWOX-related epileptic encephalopathy.
  • To describe the clinical and neuroimaging findings in these patients.

Main Methods:

  • Case report of two children with WWOX-related epileptic encephalopathy.
  • Clinical assessment including neurological examination and developmental evaluation.
  • Magnetic resonance imaging (MRI) of the brain before and during vigabatrin treatment.

Main Results:

  • Patients presented with microcephaly, hypertonia, dysphagia, global developmental delay, and early infantile onset drug-resistant epilepsy.
  • Initial MRI showed periventricular white matter volume loss and corpus callosum atrophy.
  • Vigabatrin treatment was associated with new symmetrical signal changes in the globus pallidi and thalami, consistent with VABAM.

Conclusions:

  • Vigabatrin treatment may induce specific brain MRI abnormalities (VABAM) in children with WWOX-related epileptic encephalopathy.
  • Further research is needed to determine if genetic epilepsies involving the GABAergic pathway or delayed myelination increase susceptibility to VABAM.

Keywords:
Infantile epileptic spasm syndromeToxicityVigabatrinWWOX

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