Ohjective To summarize clinical and electrophysiological manifestations of early-onset narcolepsy in children for improving its clinical diagnosis and management. Methods The clinical record, laboratory test, and management of 9 pediatrie patients with early onset narcolepsy were collected and reviewed. Results Among 9 pediatric patients, five were male and four were female. The onset age ranged from 3 years 4 months to 8 years 5 months (average 5 years 8 months). All patients presented with excessive day time somnolence. Cataplexy appeared in eight patients. No patients complained of hypnagogic hallucinations. Eight patients had mood disorders. All patients had weight gain. Electroencephalogram showed slow background in 3 patients, occasionally spike waves in 4 patients, and normal in 2 patients. Multiple sleep latency test demonstrated a short mean sleep latency ( < 5 min) and two or more sleep onset REM periods (SOREMPs) in 8 patients. Methylphenidate was administered in 8 patients. The excessive daytime sleepiness had been improved in 6 patients but no changes in cataplexy. Conclusions Early on-set narcolepsy might be misdiagnosed easily. Excessive daytime somnolence and cataplexy are the main clinical features. Multiple sleep latency test is important in early diagnosis of narcolepsy. Methylphenidate therapy is effective in some patients.%目的 总结早发型发作性睡病患儿的临床及电生理检查特征,提高临床诊疗水平.方法 对2009年8月至2010年12月期间诊治的9例早发型发作性睡病患儿的临床资料、辅助检查及治疗情况进行回顾性分析.结果 男5例、女4例,发病年龄3岁4个月～8岁5个月(平均5岁8个月).9例患儿均有白天过度睡眠；8例患儿曾出现猝倒；9例患儿均未诉入睡幻觉；8例患儿发病后情绪改变；9例患儿体质量均明显增加.脑电图检查示背景波偏慢3例,偶发尖波4例,正常2例.睡眠潜伏期试验,8例平均睡眠潜伏期＜5 min,有2次或2次以上直接进入快速动眼睡眠.8例患儿应用盐酸哌甲酯治疗,其中6例的白天过度睡眠得到改善,但猝倒无明显改善.结论 早发型发作性睡病容易误诊,主要临床表现为白天过度睡眠,发作性猝倒等.多次睡眠潜伏期试验有助于早期诊断.盐酸哌甲酯对部分患儿有效.
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