Early Onset Seizures in Vacuolating Megalencephalic Leukoencephalopathy with Subcortical Cysts (MLC-Vander Knaap Disease) in a Brahmin Family

Background: Epileptic seizures are common and occur early in most gray matter diseases but are rare in white matter disease. MLC, a white matter disease, has been mostly reported from the Agarwal community in India. It usually presents as macrocephaly with developmental delay, cerebellar and pyramidal dysfunction. We report a rare case of MLC from a Brahmin family, with early onset seizure as a rare manifestation.

Case: An 11-year-old boy from Uttarakhand, a Northern state of India, presented with recurrent seizures since ars of age. The seizure frequency was variable and semiology was focal motor, evolving to bilateral tonic–clonic seizures. He was born out of nonconsanguinous marriage and belonged to the Brahmin community. Birth history was normal but there was a history of delayed motor and mental milestones. His elder sibling also had recurrent seizures with developmental delay and both had been labeled as cases of cerebral palsy with refractory epilepsy. EEG showed focal as well as generalized spike, polyspike, and sharp wave discharges with eye closure sensitivity. MRI brain was suggestive of diffuse white matter changes with subcortical cysts. Genetic analysis proved the diagnosis of MLC in our case.

Conclusion: MLC which has primarily been reported from the Agarwal community in India can also occur in other communities, and seizures can be an early and initial manifestation of this white matter disorder. This condition is probably under-reported because of its rare occurrence and misdiagnosis.