Li Qinrui, Xu Zhao, Qin Jiong, Yang Zhixian
Department of Pediatrics, Peking University People's Hospital, Beijing, China; Epilepsy Center, Peking University People's Hospital, Beijing, China.
Department of Pediatrics, Peking University People's Hospital, Beijing, China; Epilepsy Center, Peking University People's Hospital, Beijing, China.
Pediatr Neurol. 2025 Feb;163:35-44. doi: 10.1016/j.pediatrneurol.2024.10.018. Epub 2024 Nov 15.
Epilepsy is not common in pediatric patients with phosphatase and tensin homolog (PTEN) variants. The characteristics of epilepsy, reactions to antiseizure medications, and prognosis in these patients are not fully understood. The aim of this study was to elucidate the characteristics of epilepsy and developmental outcomes in pediatric patients with PTEN variants.
We collected data from pediatric patients followed in Peking University People's Hospital from July 2018 to April 2024.
Thirteen children harboring PTEN variants were identified (mean age, 4.1 years). All the children (100%) with PTEN variants exhibited macrocephaly, 92.3% (12 of 13) had developmental delays, and 38.5% (five of 13) were diagnosed with autism spectrum disorder. Among the 13 children, 15.4% (two of 13) had epilepsy, and both responded well to antiseizure medications. Furthermore, we reviewed published articles on PTEN variants and epilepsy. We found seven studies of 665 pediatric patients with PTEN variants, including 26 patients with epilepsy. Among the 26 epileptic patients, information about the number and response to antiseizure medications was available for only 14 patients, and 15 patients had information about seizure types. Focal seizures were the most common seizure type (10 of 15, 66.7%). Only 28.6% (four of 14) of patients were diagnosed with drug-resistant epilepsy, and all patients (four of four) had abnormal brain magnetic resonance imaging findings.
In summary, a high proportion of pediatric patients with PTEN variants have developmental delay. Among epileptic patients, the most common seizure type is focal seizures, and these patients are more likely to respond to antiseizure medications if their brain imaging results are normal. Further large-scale studies are necessary to characterize the clinical characteristics of pediatric patients with epilepsy harboring PTEN variants and establish standard treatments.
患有磷酸酶和张力蛋白同源物（PTEN）变异的儿科患者中癫痫并不常见。这些患者癫痫的特征、对抗癫痫药物的反应及预后尚未完全明确。本研究旨在阐明患有PTEN变异的儿科患者癫痫的特征及发育结局。
我们收集了2018年7月至2024年4月在北京大学人民医院随访的儿科患者的数据。
共确定了13例携带PTEN变异的儿童（平均年龄4.1岁）。所有携带PTEN变异的儿童（100%）均表现为巨头畸形，92.3%（13例中的12例）有发育迟缓，38.5%（13例中的5例）被诊断为自闭症谱系障碍。在这13名儿童中，15.4%（13例中的2例）患有癫痫，且二者对抗癫痫药物反应良好。此外，我们回顾了已发表的关于PTEN变异和癫痫的文章。我们发现了7项针对665例携带PTEN变异的儿科患者的研究，其中包括26例癫痫患者。在这26例癫痫患者中，仅14例患者有关于抗癫痫药物数量及反应的信息，15例患者有癫痫发作类型的信息。局灶性发作是最常见的发作类型（15例中的10例，66.7%）。仅28.6%（14例中的4例）患者被诊断为难治性癫痫，且所有患者（4例中的4例）脑磁共振成像结果均异常。
总之，携带PTEN变异的儿科患者中很大一部分有发育迟缓。在癫痫患者中，最常见的发作类型是局灶性发作，且如果其脑成像结果正常，这些患者对抗癫痫药物更可能有反应。需要进一步开展大规模研究以明确携带PTEN变异的癫痫儿科患者临床特征并确立标准治疗方法。
