Abstracts

RATIONALE: Chorea-acanthocytosis (CHAC) is an autosomal recessive neurodegenrative disorder characterized by the gradual onset of involuntary movements and the presence of acanthocytes in the peripheral blood smear. Neurological features include chorea, orofaciolingual dyskinesia, dysarthriae, areflexia, seizures, and dementia. We are presenting a family with affected members presented with temporal lobe epilepsy.
METHODS: Detailed medical and family histories, as well as medical records, were obtained on affected family members. Four patients were examined, investigated and monitored in detail. Blood smears on these four patients were obtained searching for acanthocytosis.
RESULTS: Four patients (three siblings, offspring of a consanguineous marriage, and their maternal first cousin) presented initially with familial temporal lobe epilepsy for years before developing involuntary movements including chorea, low amplitude myoclonic jerks, dysarthria, orofacial dyskinesia, and unusual tics. Their aura consisted of a sensation of deja vu, fear, palpitation and vertigo. In addition, the cousin saw a devil making fun of him during the aura always followed by generalisation. Epilepsy was intractable in all. Lamotrigine and carbamazepine worsened the involuntary movements. Phenytoin did not worsen the involuntary movements but was not effective in controlling seizures. The patients had mood disorder and slowly progressive cognitive dysfunction. MRI of the brain showed various degrees of caudate atrophy and abnormal signal in the basal ganglia. EEG and video telemetry confirmed ictal and interictal temporal epileptic abnormalities. Peripheral blood smear showed acanthocytosis.
Eighteen individuals in this family (three generations) had various neurological and psychiatric disorders including epilepsy, chorea, orofacial and vocal tics, cognitive dysfunction, bipolar disorder and dysphagia. Inheritance of the disorder in this family seems to be either autosomal dominant or pseudo-dominant due to founder effect. Molecular studies to identify mutations in the CHAC gene are underway.
CONCLUSIONS: The patients had an unusual presentation suggestive familial temporal lobe epilepsy which made the diagnosis of CHAC difficult. Epilepsy was intractable in all. Lamotrigine and carbamazepine increased the chorea and articulation disorder. Phenytoin while not controlling the attacks did not worsen the movement disorder. Because of the underlying neurodegenerative disorder surgical treatment of the epilepsy was not considered further.