Rasmussen’s Syndrome: Case-Series Study from a Refractory Epilepsy Reference Center and Revision of Literature

Abstract

Introduction: Rasmussen’s syndrome (RS) is a rare immunomediated disease of childhood-predominant onset, presenting with refractory epilepsy and neurological deficits associated to progressive brain hemiatrophy. Its pathophysiological mechanisms are not well understood, and the effect of immunotherapy is not ascertained. Hemispheric surgery is an efficacious therapy for epilepsy, despite focal and cognitive sequelae. Curative treatment and ideal timing for surgery are still not defined. Our study aim is to describe a pediatric case-series with RS evaluated in a Reference Center for Refractory Epilepsy and compare our results with the available literature. Methods: Review of clinical, neurophysiological, radiological, therapeutics and prognosis characteristics of pediatric patients evaluated in our center with RS since 2006. Results: Eight children were included (median age of onset 8.0 years), seven with left hemisphere dysfunction. Up until surgery/present moment, four presented epilepsia partialis continua, six had focal deficits and four had cognitive decline. Most patients revealed unilateral atrophy and T2/FLAIR hyperintensity with frontal predominance in the last magnetic resonance imaging (MRI). In the last video-EEG, all patients had ipsilateral interictal epileptiform activity and one had contralateral epileptiform activity as well. PET/SPECT was used in three patients and functional MRI in one patient for language lateralization. Four were submitted to surgery (three hemispherectomies, one frontal resection), having all previously done immunoglobulin, three corticosteroids and two tacrolimus. In the first year post-surgery, two patients were seizure-free, with the others with a significant improvement of their seizures; the patient submitted to frontal resection did not present surgical sequelae, with the remaining having motor and cognitive sequelae (albeit one with language improvement). Among patients not submitted to surgery, all maintain refractory epilepsy with at least four antiseizure drugs, with immunoglobulin been used in three patients, corticosteroids in two and tacrolimus in one. Conclusion: The management of RS is challenging regarding the balance between seizure control and the neurological surgical deficits. Our sample reflects the literature data, according to which hemispherectomy is the most effective therapy for seizure control, despite causing significant morbidity, rising questions about its timing.