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早发性发作性睡病伴猝倒症病例:与单卵双胞胎对照

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

作者信息

Ito Hiromichi, Mori Kenji, Mori Tatsuo, Goji Aya, Kagami Shoji

机构信息

Department of Pediatrics, Institute of Health Biosciences, The University of Tokushima Graduate School, Tokushima, Japan.

出版信息

Pediatr Int. 2014 Oct;56(5):789-93. doi: 10.1111/ped.12377.

Abstract

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.

摘要

我们在此描述一例罕见的早发性(5岁起病)发作性睡病病例。该病例很有意思,因为能够将患者的症状与其健康的同卵双胞胎姐妹的情况进行比较。这对双胞胎之间唯一的环境差异是头部受伤,这可能与发作性睡病的存在有关。双胞胎姐妹性格外向、善于社交、可靠且灵巧。相比之下,该患者可被描述为内向、温和、诚实且有毅力,但在交谈、形势评估、记忆、规划、活动能力(她不活跃)、时间感、对指针式时钟的理解、操作效率以及体育方面表现较弱(由于肥胖)。姐妹俩在食欲和手指灵巧度方面表现出相同程度。发作性睡病常常未得到充分认识或诊断不足,尤其是在发病于儿童期时。当我们观察到有白天过度嗜睡的学龄前儿童时,应考虑发作性睡病伴猝倒的可能性。

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