Background:
Waardenburg syndrome (WS) is caused by autosomal dominant mutations. Since the coexistence of epilepsy and WS type I is rare, the detailed clinical features and treatment of epilepsy, including surgery, have not been fully reported for these patients. We report the first case of an individual with WS type I, who underwent corpus callosotomy (CC) for drug-resistant epilepsy and obtained good seizure outcomes.
Case description:
A boy was diagnosed as having WS type I and developmental delay based on characteristic symptoms and a family history of hearing loss. He underwent cochlear implantation at 18 months of age. At 4 years of age, he developed epileptic seizures with a semiology of drop attack. Electroencephalography (EEG) showed bilateral synchronous high-amplitude spikes and wave bursts, dominant in the right hemisphere. Based on the multimodality examinations, we considered that ictal discharges propagated from the entire right hemisphere to the left, resulting in synchronous discharge and a clinical drop attack; therefore, CC was indicated. At 9 years of age, he underwent a front 2/3rd CC. At 1 year, the patient became seizure free, and interictal EEG showed less frequent and lower amplitude spike and wave bursts than before.
Conclusion:
When patients with WS Type I and cognitive impairment show drug-resistant epilepsy, clinicians should consider a presurgical evaluation.