Successful Treatment of Drug-Resistant Seizures Secondary to Ring 20 Mosaicism with Perampanel as an Add-On Antiepileptic Drug. (26th May 2022)

• Record Type: Journal Article
• Authors: Ling, Janet; Yeung, Wai Lan; Hon, Kam Lun; Lo, Ivan F. M.; Luk, Ho-Ming; Fung, Cheuk Wing; Leung, Alexander K. C.
• Other Names: Mejía-Aranguré Juan Academic Editor.
• Is Part Of: Case reports in pediatrics. Volume 2022(2022)
• Publication Date: 2022-05-26
• Subjects: Pediatrics -- Periodicals; Pediatrics; Pediatrics; Electronic journals; Periodicals; Case Reports; Periodicals; Case Reports; Fulltext; Internet Resources; Periodicals; 618.92
• DOI: 10.1155/2022/7414628
• Languages: English
• ISSNs: 2090-6803

Abstract

Abstract : We report a girl with drug-resistant seizures, progressive behavioral changes, and cognitive decline. Investigations showed abnormal EEG with frequent high-voltage bifrontotemporal sharp and slow waves, especially during sleep. Seizures were difficult to control, despite the usage of various antiepileptic drugs. Perampanel as an add-on antiepileptic drug appeared efficacious. Due to the recognizable pattern of seizures and EEG findings, a karyotype study was performed which revealed 46 chromosomes with a ring 20 chromosome mosaicism. Ring 20 chromosome is associated with drug-resistant refractory seizures, cognitive decline, and behavioral problems. This case highlights the difficulty and challenge faced in managing drug-resistant refractory seizures associated with ring 20 chromosome. While ring 20 chromosome is often underdiagnosed, one should have a high index of awareness and suspicion of such rare epilepsy syndrome, so that an early diagnosis can be made.