热敏感相关癫痫的早期识别与诊断

Early identification and diagnosis of epilepsy related to fever sensitivity

摘要:

热性惊厥是儿童期最常见的神经系统疾病，多数患儿预后良好。但一些癫痫易于被发热诱发，具有"热敏感"的特点，且早期不易与热性惊厥鉴别。热敏感相关癫痫包括遗传性癫痫伴热性惊厥附加症、Dravet综合征、PCDH19基因相关癫痫等。该文主要综述这三种癫痫的临床表现，总结起病早期的临床特点，以期早期识别、早期诊断、早期干预，从而达到改善预后的目的。

Abstract:

Febrile seizures are the most common nervous system disease in childhood, and most children have a good prognosis. However, some epilepsy cases are easily induced by fever and are characterized by "fever sensitivity", and it is difficult to differentiate such cases from febrile seizures. Epilepsy related to fever sensitivity includes hereditary epilepsy with febrile seizures plus, Dravet syndrome, and PCDH19 gene-related epilepsy. This article mainly describes the clinical manifestations of these three types of epilepsy and summarizes their clinical features in the early stage of disease onset, so as to achieve early identification, early diagnosis, and early intervention to improve prognosis.