1例发作性睡病的6岁孩子最初误诊为不典型癫痫的病例报告(英文)

本文报告1例6岁女童首次发生发作性睡病被误诊为不典型癫痫。之后10个月在8家不同医院被误诊为其他疾病,最后才得以确诊。发作性睡病的诊断在小儿中比较困难,因为睡眠发作、猝倒、入睡前幻觉和睡眠麻痹四个主要症状都存在的病例在儿童中极少见到。患儿往往发作期更长、症状多样化。为了缩短从首次发病到确诊的时间,我们建议对所有不明原因过度睡眠的患儿监测睡眠并进行睡眠潜伏期试验,以排除发作性睡病的可能,而不论其相关症状如何。该病例凸显出罕见精神障碍的表现可以是多种多样的,特别是儿童。这就需要临床医生在采集病史时要充分考虑这些病例的非典型表现。

Case report of narcolepsy in a six-year-old child initially misdiagnosed as atypical epilepsy

Summary： This report describes a case of first-onset narcolepsy in a six-year-old female that was misdiagnosed as atypical epilepsy and other diagnoses at eight different hospitals over a period of 10 months before the correct diagnosis was made. The diagnosis of narcolepsy is more difficult in children because very few of them experience all four cardinal symptoms of narcolepsy - paroxysmal sleep, cataplexy, hypnagogic hallucination, and sleep paralysis - and they often have a more prolonged onset and diverse symptoms. To decrease the time lag between initial presentation and accurate diagnosis, we recommend that in all cases in which children report excessive sleep of unknown etiology - regardless of the associated symptoms - that sleep monitoring and sleep latency tests be conducted to rule out the possibility of narcolepsy. The case highlights the wide variety of presentations of uncommon psychiatric conditions, particularly in children, and the need for clinicians to be aware of the atypical presentations of these conditions when collecting medical histories.