Adult‐onset frequent non‐convulsive status epilepticus in a patient with ring chromosome 20 syndrome

Abstract

Ring chromosome 20 [r(20)] syndrome is a rare chromosomal disorder and a cause of refractory epilepsy. Since the first description of r(20) syndrome from 1972, over 100 cases have been reported, but it is still difficult to diagnose due to the absence of significant diagnostic dysmorphic features and delayed cytogenetic analysis after seizure onset. 1 Most patients in reported cases were associated with refractory epilepsy, mild-to-moderate cognitive impairment, and/or behavioral problems. 2 Herein, we report a 31-year-old woman with r(20) syndrome who presented intractable seizures and non-convulsive status epilepticus (NCSE) from 30 years old, without mental deterioration.