目的 总结1型神经纤维瘤病（neurofibromatosis type 1, NF1）相关婴儿癫痫性痉挛综合征（infantile epileptic spasms syndrome, IESS）的临床特征。 方法 回顾性分析2018年1月—2025年4月于中南大学湘雅医院就诊的6例NF1相关IESS患儿的临床资料，总结其临床表现、辅助检查、治疗及预后特点。 结果 6例患儿中，男性2例，女性4例；6例患儿均见牛奶咖啡斑，且均合并1种及以上其他NF1相关表现；3例患儿有NF1一级家族史。6例患儿的癫痫发作均为痉挛发作，脑电图均呈高度失律；5例颅脑磁共振成像可见基底节区NF1相关T₂高信号灶。所有患儿经促肾上腺皮质激素和/或氨己烯酸等治疗后，达电临床缓解，但均遗留不同程度的神经发育落后。 结论 NF1相关IESS患儿多出现IESS典型三联征，部分患儿颅脑磁共振成像可见基底节区NF1相关T₂高信号灶，标准一线治疗多可控制痉挛发作，但神经发育结局仍需长期关注。

Objective To summarize the clinical characteristics of neurofibromatosis type 1 (NF1) associated with infantile epileptic spasms syndrome (IESS). Methods A retrospective analysis was conducted on the medical records of six children with NF1 and IESS who were treated at Xiangya Hospital, Central South University, between January 2018 and April 2025. Clinical manifestations, ancillary examinations, treatment, and prognosis were summarized. Results Among the six children, two were male and four were female. All presented with café-au-lait spots, and each had one or more additional NF1-related manifestations. Three children had a first-degree family history of NF1. Seizure type was epileptic spasms in all cases, with hypsarrhythmia observed on electroencephalogram. Brain magnetic resonance imaging showed NF1-related T₂ hyperintense lesions in the basal ganglia region in five cases. Electroclinical remission was achieved in all patients after treatment with adrenocorticotropic hormone and/or vigabatrin; however, varying degrees of neurodevelopmental delay remained. Conclusions Children with NF1 and IESS commonly present with the typical triad of IESS. Some patients show NF1-related T₂ hyperintense lesions in the basal ganglia on brain magnetic resonance imaging. Standard first-line treatments often control spasms effectively, but neurodevelopmental outcomes require long-term monitoring.