伴SCN1A突变的Dravet综合征误诊误治原因分析

摘要

Objective To analyze the causes of misdiagnosis and mistreatment of Dravet syndrome. Methods Patients with Dravet syndrome diagnosed according to clinical features and SCN1A gene mutation detection were recruited within recent 3 years. The patients were grouped into correct diagnosis-treatment group and misdiagnosis-mistreatment group according to whether the patients had ever been misdiagnosed and mistreated by sodium channel blockers. The clinical features were compared between two groups. Results Thirty-five cases with Dravet syndrome were collected and the rate of misdiagnosis reached 40%, Nine cases were misdiagnosed as symptomatic focal epilepsy, 4 as Lennox-Gastaut syndrome and 1 as Doose syndrome. The average age of onset in misdiagnosis-mistreatment group was (5.50 ± 3.56) months,and the age of confirmed diagnosis was (83.57 ± 105.62) months. The percentage of abnormal EEG, onset seizure with partial seizure, the seizure frequency within the first year from onset, onset with afebrile seizure, patients with status epilepticus or cluster seizures was higher in misdiagnosis-mistreatment group but it showed no significant statistical significance when compared with that of correct diagnosis-treatment group. The percentage of patients with mental retardation and focal neurological signs was significantly higher in misdiagnosis-mistreatment group (P=0.005 and 0.002, respectively). Conclusions Dravet syndrome is frequently misdiagnosed as symptomatic focal epilepsy. The appearance of focal neurological signs and mental retardation before confirmed diagnosis are important factors for misdiagnosis. Gene mutation screening will be helpful for differential diagnosis of Dravet syndrome.%目的：对Dravet综合征误诊误治的原因进行分析，以便提高对该病的诊治水平。方法：对在我院近3年就诊经SCN1A基因检测确诊的Dravet综合征患者的病程进行分析，根据患者是否曾被误诊为其他癫痫综合征并使用钠通道阻滞剂错误治疗分为诊治正确组和误诊误治组，对两组的临床特征进行比较。结果：共收集Dravet综合征患者35例，其中误诊误治组14例，误诊率为40．0％，被误诊为症状性局灶性癫痫最为常见。误诊误治组患者的平均起病年龄为（5．50±3．56）个月，平均确诊年龄为（83．57±105．62）个月。误诊误治组脑电图异常的比例、以部分性发作起病的患者比例、起病最初1年中发作频率、以无热发作为起病形式的患者比例、出现持续状态和簇集发作的患者比例均高于诊治正确组，但两组差异并无统计学意义。而误诊误治组中确诊前就有生长发育迟滞且有局灶性神经系统体征的患者比例明显高于诊治正确组（P ＝0．005，P ＝0．002）。结论：Dravet综合征在临床上常被误诊，最常被误诊为症状性局灶性癫痫。确诊前有局灶性神经系统体征、伴有生长发育迟滞是其被误诊的重要原因，临床上应及时进行基因筛查以协助鉴别诊断。