부산대학교 도서관

INTRODUCTION Ring chromosomes (RCs) are rare genetic disorders caused by intrachromosomal fusion. Among RCs, the ring 20 chromosome [r(20)] has attracted special interest because of its distinct electroclinic features, first [...]
Ring chromosome 20 syndrome is a rare genetic disorder characterized by non-convulsive status epilepticus (NCSE) attacks, leading to prolonged confusional states of varying intensity. It is often accompanied by electroencephalography (EEG) changes, such as long-lasting slow waves and occasional spikes, primarily over the frontal lobes, as well as focal seizures with visual hallucinations, cognitive impairment, and behavioral problems. Although clinical suspicion, typical EEG abnormalities, and network disorders revealed by functional neuroimaging method aid in diagnosis, karyotyping remains essential. Seizures are typically drug-resistant although some limited success has been reported with certain anti-seizure drugs. In this report, we present the case of a patient with previously frequent drug-resistant NCSE periods characterized by prolonged confusional states and frightening visual hallucinations. Treatment with lacosamide partially decreased the frequency of seizures. In addition, positron emission tomography/computed tomography (PET/CT) imaging revealed hypometabolism in the frontal and parietal regions of the brain. In patients with drug-resistant and early frightening hallucinations, consideration of the ring 20 chromosome anomaly is crucial. PET/CT imaging may demonstrate hypometabolism in the parietal and frontal lobes, potentially associated with the hallucinations and epileptogenesis of the syndrome. Lacosamide may be a viable option for reducing seizures in Ring chromosome 20 syndrome. Keywords: Non-convulsive status epilepticus, visual hallucinations, drug-resistance, karyotyping, ring 20, lacosamide