Efficacy of methylprednisolone therapy in atypical Rolandic epilepsy with heterozygous RELN mutation

Abstract

Background: Atypical Rolandic epilepsy, also known as benign childhood epilepsy with centrotemporal spikes (BECTS) variant is defined by the appearance of severe neuropsychological impairments and refractory epilepsy. The etiology of the disease remains unclear, and recent studies indicated that it is related to several gene mutations. The suitable treatment is also need to be further explored. Here, we present the case of a 9-year-old boy with BECTS variant found to have heterozygous RELN mutation, responded well to the corticosteroid therapy. Case presentation: A 9-year-old male patient with atypical benign Rolandic epilepsy was successfully treated with high-dose intravenous methylprednisolone pulse therapy (15 mg/kg daily for 3 consecutive days, and the infusion was repeated three times with a 4-day interval between each course). The treatment improved his electroencephalogram (EEG) and cognitive performance, reduced seizure frequency, and the effect maintained for one year of follow-up. Whole-exome sequencing (WES) revealed a meaningful heterozygous missense mutation in the RELN gene. Conclusion: We conclude that corticosteroid therapy should be considered as a therapeutic option in patients with BECTS variant who are also found to harbour RELN mutations.