Abstracts

Rationale: Chronic progressive epilepsy with hemiatrophy is a rare condition usually seen in childhood and known as Rasmussen’s encephalitis. There is, however, similar group of progressive epilepsy developing in adolescence and early adulthood. These patients have been difficult both to diagnose and to treat and the etiology is generally still unknown. Here we describe 3 cases with severe progressive, pharmacoresistant epilepsy and cerebral hemiatrophy, discussing the need to identify biomarkers for early identification of such cases. In all cases conventional therapeutic have failed entirely.Methods: The information used in this report was gathered from medical records of each patient and included age of onset, radiological, biochemical and neurophysiological neurophysiological findings, number of antiepileptic drugs and information on other treatments.Results: We present three cases with late onset chronic progressive epilepsy with cerebral hemiatrophy. Age at onset was 14,25,19, respectively. In all cases focal seizures with or without generalization were the dominant symptom. All three had epilepsia partialis continua at late stages. Cognitive impairment was not seen initially, but developed gradually in all cases with time. At onset two had normal MRI findings, the third had agenesia of nucl. caudatus which could not be directly related to the present condition. Later, all developed unilateral inflammatory changes and hemiatrophy. All had normal CSF findings, including an extensive search for relevant autoantibodies. The mean number of AED was 9 (range 7-11). In addition to antiepiletic drugs, all were treated with intravenous IVIg and corticosteroids, one also with cyclophosphamide. Surgical treatment was performed in all. Biopsies could not confirm inflammation in any of the cases. One patient died 11 years after the onset. The remaining two patients have severe partial epilepsy, hemiparesis, progressive cognitive decline and poor quality of life.Conclusions: Late onset chronic progressive epilepsy with cerebral hemiatrophy is a therapeutic and diagnostic challenge. To detect this syndrome at an early stage is difficult, typically leading to delayed effective therapeutic intervention. This group of ‘progressive refractory epilepsy’ may be prevented by interrupting this self-perpetuating progression if specific etiology can be defined. There is an urgent need to identify biomarkers at an early stage in the surge for treatment of this devastating condition.