Saleem Nadia M, Chencheri Nidheesh, Thomas Sen, Alexander Gail, Madathil Biju
Department of Medicine and Surgery, Dubai Academic Health Corporation, Dubai, ARE.
Department of Pediatric Neurology, Al Jalila Children's Specialty Hospital, Dubai, ARE.
Cureus. 2024 Feb 9;16(2):e53906. doi: 10.7759/cureus.53906. eCollection 2024 Feb.
We present a case of a three-year-old girl with a rare genetic epilepsy with developmental delay. She was born to a non-consanguineous parentage and required resuscitation soon after delivery via cesarean section. The patient had her first seizure within 36 hours of life, which progressed into refractory epilepsy. She required multiple hospital admissions due to prolonged seizures. Despite being tried on multiple drug combinations over the years, she responded only to phenytoin. Basic imaging and other investigations, including genetic analysis, revealed a fibroblast growth factor 12 (FGF12) mutation. Mutations in these genes cause refractory early-onset seizures associated with severe developmental delay. Due to early and appropriate intervention with phenytoin, she had good seizure control which probably resulted in a better developmental outcome.
我们报告了一例患有罕见遗传性癫痫并伴有发育迟缓的三岁女孩。她出生于非近亲结婚的父母家庭，剖宫产出生后不久需要进行复苏。该患者在出生后36小时内首次发作，随后发展为难治性癫痫。由于癫痫持续时间延长，她需要多次住院治疗。尽管多年来尝试了多种药物组合，但她仅对苯妥英有反应。包括基因分析在内的基本影像学和其他检查发现了成纤维细胞生长因子12（FGF12）突变。这些基因的突变会导致与严重发育迟缓相关的难治性早发性癫痫发作。由于早期使用苯妥英进行了适当干预，她的癫痫得到了良好控制，这可能带来了更好的发育结果。
