Neuropathologic Findings in Lennox-Gastaut Syndrome (SCN2A-Related): A Case Report and Review of Literature

Abstract

Lennox-Gastaut syndrome is a form of severe childhood epilepsy caused by a variety of etiologies including structural abnormalities, inflammatory conditions affecting the brain, malignancy, injury, or unknown causes. Sodium channelopathies have been linked to multiple seizure disorders, including Lennox-Gastaut syndrome, due to their role in action potential propagation in the brain. SCN2A is one such voltage gated sodium channel found primarily in the central nervous system. We present a case of a 6-year-old female with Lennox-Gastaut syndrome and a heterozygous SCN2A variant who became unresponsive during a supervised bath and later died. The neuropathologic exam was remarkable for dentato-olivary dysplasia, among other gross and microscopic abnormalities. We present this case highlighting rarely documented neuropathologic findings in Lennox-Gastaut syndrome associated with a channelopathy (SCN2A variant) as well as a review of literature of previously reported brain abnormalities in patients with SCN2A variants.