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噬血细胞性淋巴组织细胞增生症所致发热感染相关癫痫综合征:一例报告

[Febrile infection-related epilepsy syndrome caused by hemophagocytic lymphohistiocytosis: a case report].

作者信息

Deng Xiao-Lu, Yang Li-Fen, Wang Xia, Zhang Hui, He Jian, Peng Jing

机构信息

Children's Medical Center, Xiangya Hospital, Central South University, Changsha 410008, China.

出版信息

Zhongguo Dang Dai Er Ke Za Zhi. 2025 Jul 15;27(7):864-869. doi: 10.7499/j.issn.1008-8830.2503079.

Abstract

The patient was a girl, aged 10 years, who was admitted due to fever for 5 days and pancytopenia in peripheral blood for 2 days. Bone marrow examination showed the presence of phagocytic activity, and peripheral blood tests showed pancytopenia, an increase in ferritin, a reduction in fibrinogen, increases in triglyceride and sCD25, and a reduction in natural killer cell activity, which led to the diagnosis of hemophagocytic lymphohistiocytosis (HLH). On the day of admission, the child developed convulsions and rapidly progressed to refractory status epilepticus, which was consistent with the manifestations of febrile infection-related epilepsy syndrome. HLH was controlled after active immunotherapy, with the sequela of refractory epilepsy, and her cognitive function was essentially within normal limits. This article reports the condition of febrile infection-related epilepsy syndrome caused by HLH for the first time in China, in order to improve the awareness of this disease among clinicians.

摘要

该患者为一名10岁女孩,因发热5天、外周血全血细胞减少2天入院。骨髓检查显示存在吞噬活性,外周血检查显示全血细胞减少、铁蛋白升高、纤维蛋白原降低、甘油三酯和可溶性细胞间黏附分子25升高以及自然杀伤细胞活性降低,据此诊断为噬血细胞性淋巴组织细胞增生症(HLH)。入院当天,患儿出现惊厥并迅速进展为难治性癫痫持续状态,这与发热感染相关癫痫综合征的表现相符。积极免疫治疗后HLH得到控制,但遗留难治性癫痫后遗症,其认知功能基本正常。本文首次在中国报道HLH所致发热感染相关癫痫综合征的病例情况,以提高临床医生对该病的认识。

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