Case of early childhood-onset narcolepsy with cataplexy: comparison with a monozygotic co-twin.

Case of early childhood-onset narcolepsy with cataplexy: comparison with a monozygotic co-twin.
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儿童早期发作的发作性睡病伴猝倒的病例:与同卵双胞胎的比较。

DOI:
10.1111/ped.12377
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发表时间:
2014
期刊:
影响因子:
1.4
通讯作者:
Kagami S.
Kagami S.
中科院分区:
医学4区
文献类型:
--
作者:
Ito H;Mori K;Mori T;Goji A;Kagami S.

文献摘要

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我们在这里描述了一个罕见的情况下,儿童早期发作(5岁)嗜睡症。该病例很有趣,因为能够将患者的症状与其健康的同卵双胞胎姐妹的状况进行比较。双胞胎之间唯一的环境差异是头部受伤,这可能与嗜睡症的存在有关。这对双胞胎性格外向、善于交际、可靠、灵巧。相比之下,患者可以被描述为内向,温柔,诚实和坚持不懈,但在谈话,评估情况,记忆,计划,活动(她不活跃),时间感,对模拟时钟的理解,操作效率和体育教育(由于肥胖)方面很弱。这对姐妹篇表现出同样的食欲和灵巧的手指。嗜睡症通常被低估或诊断不足,特别是当发作发生在儿童时期时。当我们观察到学龄前儿童白天过度嗜睡时,我们应该考虑发作性睡病伴癫痫发作的可能性。
We describe here a rare case of early childhood‐onset (5 years of age) narcolepsy. This case was interesting because of the ability to compare the patient's symptoms to the condition of her healthy monozygotic co‐twin sister. The only environmental difference between the co‐twins was head injury, which may be associated with the presence of narcolepsy. The co‐twin was extroverted, sociable, reliable, and dexterous. In contrast, the patient could be described as introverted, gentle, honest and persevering, but was weak at conversation, assessment of a situation, memory, planning, activity (she was inactive), a sense of time, understanding of an analog clock, operating efficiency, and physical education (due to obesity). The sisters showed the same degree of appetite and dexterity with their fingers. Narcolepsy is often under‐recognized or underdiagnosed, especially when the onset occurs in childhood. When we observe preschoolers with excessive daytime sleepiness, we should consider the possibility of narcolepsy with cataplexy.