Total corpus callosotomy for an adult patient with progressive myoclonic epilepsy associated with dentatorubral-pallidoluysian atrophy: illustrative case.

Background: The authors report the first case of an adult patient with progressive myoclonic epilepsy (PME) due to dentatorubral-pallidoluysian atrophy (DRPLA) who underwent total corpus callosotomy (CC) for drug-resistant epilepsy, resulting in a significant reduction in seizure frequency and improved quality of life (QOL).

Observations: A patient developed upper limb myoclonus followed by tonic seizures in the upper and lower limbs at 8 years of age with progressive symptoms of cerebellar ataxia and cognitive decline at 10 years of age. The patient was diagnosed with DRPLA. Despite antiepileptic drug therapy, seizures persisted and worsened, leading to oxygen desaturation during epileptic seizures. Focal to bilateral tonic-clonic seizures (FBTCSs) evolved into status epilepticus, lasting more than 30 minutes every day. Therefore, the authors considered that a surgical intervention may alleviate daily seizures. To warrant the rapid therapeutic effect, a total CC was performed. The frequency and severity of his seizures decreased significantly after surgery, and tonic seizures and FBTCSs with oxygen desaturation disappeared 1 year after surgery.

Lessons: Total CC for refractory PME with severe cognitive impairment can not only alleviate seizures rapidly but also improve patients' QOL. Therefore, CC may represent a viable therapeutic option for refractory PME. https://thejns.org/doi/10.3171/CASE2576.