Abstract
BACKGROUND: Spinocerebellar ataxia type 8 is an uncommon genetic condition and presents with gait disturbances, ataxia, dysarthria, nystagmus, and cognitive and psychiatric abnormalities. Seizures are extremely uncommon in the spinocerebellar ataxias and have been reported only once before in a patient with spinocerebellar ataxia type 8. This case report highlights the need to evaluate spells in patients with a known neurodegenerative or genetic disease to exclude seizures, and it stresses the importance of timely diagnosis and therapy. CASE PRESENTATION: The patient was a 22-year-old Caucasian woman with known spinocerebellar ataxia 8 since age 10 years. She was admitted to our hospital with new-onset left hemiparesis and encephalopathy in addition to chronic occurrence of multiple spells of confusion and oromanual automatisms with postictal lethargy. Testing confirmed that she was having recurrent seizures with episodes of nonconvulsive status epilepticus. Urgent treatment with antiepileptic therapy was initiated; her seizures resolved shortly thereafter, and her mental status improved. Her left hemiparesis has improved; she remains seizure-free; and she has returned to her baseline antiepileptic medications following physical therapy. CONCLUSIONS: Seizures have been reported extremely rarely in association with spinocerebellar ataxia 8, but they must be considered in the differential diagnosis of patients with spells of altered awareness, especially in those with a known neurodegenerative or genetic condition. Clinicoradiological correlation with symptoms can help expedite diagnosis and treatment. Expert consultation with epileptologists at the earliest signs can help establish the diagnosis quickly, minimize morbidity, and enhance recovery.