Cerebellar hamartoma presenting with refractory hemifacial spasms in infancy

초록

Background: Hemifacial seizures of cerebellar tumor are very rare in infancy. Cerebellar tumor origin is a unique epileptic syndrome originating in subcortical areas. It is usually associated with infantle onset of repeated eyelid blinking and hemifacial spasms, which are not controlled with medication. Case: A 2 months old female infant was referred to our hospital due to a history of repetitive and sterotyped attacks of left facial contractions, eye blinking and involuntary tremulous movements of the left limbs. EEG presented continuous rhythmic 1Hz spike and slow wave discharges on left frontal area followed by very fast beta activity. MRI showed an enhancing mass sized 1.9*2.1*2.5cm in the left cerebellar vermis. Initially, she was treated with antiepileptic drugs of phenobarbital, high dose midazolam and topiramate, but the frequency and duration of her hemifacial spasms continued. The mass was resected when the patient was 3 months old. Histopathologic examination revealed a mass composed of numerous large disorganized neurons in the glial background, and the pathologic diagnosis was hamartoma. After the operation, no seizure occurred, and all antiepileptic drugs were stopped. Conclusion: We reported a case of cerebellar hamartoma presenting with refractory hemifacial spasms. Early operation of the epileptogenic mass lesion should be considered in hemifacial seizures.