DEVELOPMENT OF MESIAL TEMPORAL LOBE EPILEPSY IN CHOREA-ACANTHOCYTOSIS

Abstract

Chorea-acanthocytosis (ChAc) is a hereditary movement disorder that is caused by recessive mutations in the VPS13A gene on chromosome 9q21, encoding for chorein.1 Epilepsy is currently not considered a core clinical feature of ChAc, although approximately 40% of patients are affected by seizures. We report on 3 patients with mesial temporal lobe epilepsy as the first, predominant clinical indication, and in 2 of the patients so far the sole clinical symptom of the disease. For the first time in this context, a pathologic process in the medial temporal lobes, leading to hippocampal atrophy, is unequivocally documented. ### Case histories. Patient 1 was a 14-year-old boy when, after repeat epigastric sensations, a first seemingly generalized tonic-clonic seizure led to hospital admission. Several weeks prior, he had started to complain about repetitive deja vu. Repeat EEG studies most frequently showed normal 10/second alpha-, but also paroxysmal generalized theta-, right hemispheric delta-, and right temporo-occipital spike- and sharp-wave activity. Until the present, 4 years after the initial onset, 2 more tonic-clonic seizures have occurred, and, with variable frequencies, the patient continues to report rising epigastric sensations, deja vu, and amnesic auras. Medical treatment currently consists of the administration of topiramate (300 mg/day). Patient 2, the older brother of patient 1, had a first complex partial seizure at 23 years of age. His history was unremarkable; no febrile seizures had been reported. Lately, however, he has also reported repeat episodes of deja vu. EEG findings ranged from normal 9/second alpha- to intermittent and continuous spike- and sharp-wave activity over both frontotemporal regions. Apart from rare epigastric auras, the patient is presently (i.e., 8 months after his first epileptic seizure) seizure-free under levetiracetam (2,500 mg/day). Patient 3 is a 39-year-old man …