磷蛋白酸性簇分选蛋白2(PACS2)相关的早期婴儿发育性和癫痫性脑病(EIDEE)是一种罕见的神经发育障碍。EIDEE的特征是在生命的前三个月开始发作,并随着时间的推移伴有发育障碍。在这篇文章中,我们介绍了3例EIDEE患者,他们经历了新生儿发作性癫痫发作,在婴儿期发展为难治性癫痫发作.全外显子组测序显示,在PACS2基因的p.Glu209Lys变体中,所有三名患者均存在从头杂合错义变体。我们进行了文献回顾,发现29例病例来表征癫痫发作模式,神经影像学特征,抗惊厥药的使用,以及PACS2相关EIDEE的临床神经发育结果。癫痫发作的特点是短暂的,上肢反复发作的强直性癫痫发作,有时伴有自主神经特征。在后颅窝区域观察到神经影像学异常,包括大水箱,小脑发育不良,和Vermian发育不全.长期预后范围从低平均智力到严重发育迟缓,强调儿科神经科医师早期识别和准确诊断的重要性,以提供个性化的患者管理。
Phosphofurin Acidic Cluster Sorting Protein 2 (
PACS2)-related early infantile developmental and epileptic encephalopathy (EIDEE) is a rare neurodevelopmental disorder. EIDEE is characterized by seizures that begin during the first three months of life and are accompanied by developmental impairment over time. In this article, we present three patients with EIDEE who experienced neonatal-onset seizures that developed into intractable seizures during infancy. Whole exome sequencing revealed a de novo heterozygous missense variant in all three patients in the p.Glu209Lys variant of the
PACS2 gene. We conducted a literature review and found 29 cases to characterize the seizure patterns, neuroimaging features, the usage of anticonvulsants, and the clinical neurodevelopmental outcomes of
PACS2-related EIDEE. The seizures were characterized by brief, recurring tonic seizures in the upper limbs, sometimes accompanied by autonomic features. Neuroimaging abnormalities were observed in the posterior fossa region, including mega cisterna magna, cerebellar dysplasia, and vermian hypoplasia. The long-term prognosis ranges from low-average intelligence to severe developmental retardation, emphasizing the importance of early recognition and accurate diagnosis by pediatric neurologists to provide personalized patient management.