Successful Treatment of Drug-Resistant Seizures Secondary to Ring 20 Mosaicism with Perampanel as an Add-On Antiepileptic Drug

• Published in: Case reports in pediatrics Vol. 2022; pp. 7414628 - 6
• Main Authors: Ling, Janet, Yeung, Wai Lan, Hon, Kam Lun, Lo, Ivan F. M., Luk, Ho-Ming, Fung, Cheuk Wing, Leung, Alexander K. C.
• Format: Journal Article
• Language: English
• Published: United States Hindawi 2022; Hindawi Limited
• Subjects: Anticonvulsants; Case Report; Case reports; Children & youth; Childrens health; Chromosomes; Consciousness; Convulsions & seizures; Drug dosages; Drug resistance; Electroencephalography; Gene expression; Patients; Pediatrics; Semiotics; Sodium
• ISSN: 2090-6803; 2090-6811
• DOI: 10.1155/2022/7414628

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.