Ling Janet, Yeung Wai Lan, Hon Kam Lun, Lo Ivan F M, Luk Ho-Ming, Fung Cheuk Wing, Leung Alexander K C
The Hong Kong Children's Hospital, Kowloon Bay, Hong Kong.
Clinical Genetic Service, Department of Health, HKSAR, Kowloon Bay, Hong Kong.
Case Rep Pediatr. 2022 May 26;2022:7414628. doi: 10.1155/2022/7414628. eCollection 2022.
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.
我们报告了一名患有耐药性癫痫发作、进行性行为改变和认知衰退的女孩。检查显示脑电图异常，频繁出现高电压双侧额颞部尖波和慢波，尤其是在睡眠期间。尽管使用了各种抗癫痫药物，但癫痫发作仍难以控制。作为附加抗癫痫药物的吡仑帕奈似乎有效。由于癫痫发作模式和脑电图结果可识别，进行了核型研究，结果显示46条染色体，伴有20号环状染色体嵌合体。20号环状染色体与耐药性难治性癫痫发作、认知衰退和行为问题有关。该病例凸显了在管理与20号环状染色体相关的耐药性难治性癫痫发作时所面临的困难和挑战。虽然20号环状染色体常常诊断不足，但对于这种罕见的癫痫综合征，人们应保持高度的警惕性和怀疑态度，以便能够早期诊断。
