性发作在七视视垂体失生症:一个回顾性队列研究
Lisa B E Shields1, Seema Shahi2, Grae McCarty2
1Norton Neuroscience Institute, Norton Healthcare, Louisville, Kentucky.
Pediatric neurology
|July 15, 2025
概括
发作 (ES) 发生在6.7%的患有视垂体形 (SOD) 患者身上,导致严重的发育迟缓和伦诺克斯-加斯托综合征 (LGS) 的高风险. 早期检测对于潜在的结果改善至关重要.
科学领域:
- 神经学 神经学
- 儿科 儿科 儿科
- 发病学 (Epileptology) 是一个专业的学科.
背景情况:
- 视垂体形症 (SOD) 是一种影响大脑发育的先天性疾病.
- 发作 (ES) 是儿童的一种严重形式.
- 在SOD患者中ES的同时发生和影响尚未得到充分证实.
研究的目的:
- 为了确定发作 (ES) 的患病率,在患有阴道视垂体形症 (SOD) 的患者中.
- 描述临床表现,神经成像发现和SOD中ES的脑电图 (EEG) 模式.
- 评估长期结果,包括的进展和神经发育状态.
主要方法:
- 对21岁以下被诊断患有SOD和ES的患者的回顾性图表审查.
- 分析临床数据,神经成像,EEG发现和治疗反应.
- 评估发育里程碑和的结果,直到最后的随访.
主要成果:
- 在105名SOD患者中,有7名 (6.7%) 被诊断为ES患者,通常在婴儿期 (平均8.2个月) 发病.
- 常见的神经成像发现包括视神经低成形,缺席隔膜透明和精神分裂症;严重的发育迟缓是普遍的.
- 所有患者都患有耐药性,其中5例进展为Lennox-Gastaut综合征 (LGS);只有1例实现了发作的解决.
结论:
- 发作在SOD患者中相对常见,并与严重的神经发育障碍相关.
- 在这个队列中,发展为Lennox-Gastaut综合征 (LGS) 的风险很高.
- 在SOD患者中早期识别和管理ES对于潜在地改善长期结果至关重要.
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