同卵双胞胎中的发作性睡病伴猝倒症。
Narcolepsy with cataplexy in monozygotic twins.
作者信息
Goulart Leonardo I, Pedrazolli Mário, Martori Alexandre H, Eckeli Alan, Sander Heidi H
机构信息
Clinical Neurophysiology Department, Hospital Israelita Albert Einstein, São Paulo, Brazil.
Discipline of Gerontology, Universidade de São Paulo, Brazil.
出版信息
Sleep Sci. 2014 Mar;7(1):62-4. doi: 10.1016/j.slsci.2014.01.001. Epub 2014 Sep 10.
INTRODUCTION
This paper describes narcolepsy with cataplexy in two monozygotic twin sisters.
OBJECTIVE
To clinically illustrate the involvement of neurological, genetic and immunologic systems in narcolepsy.
MATERIAL AND METHODS
We performed a restropective study of these patients that were followed in the sleep medicine ambulatory clinic of the Faculdade de Medicina de Ribeirao Preto.
RESULTS
These sisters are two of the few cases in the literature concordant for narcolepsy with catalepsy and without a "positive HLA" for narcolepsy. They had a typical clinical course of narcolepsy with cataplexy and attended all the neurophysiological diagnostic criteria for narcolepsy.
CONCLUSION
In addition to known possible genetical similarity, this report stresses the role of environmental or unknown genetical factors acting on a specific neuro-imuno-genetical background and resulting in narcolepsy.
引言
本文描述了一对同卵双胞胎姐妹患发作性睡病伴猝倒症的情况。
目的
从临床角度说明发作性睡病中神经、遗传和免疫系统的参与情况。
材料与方法
我们对在里贝朗普雷图医学院睡眠医学门诊随访的这些患者进行了回顾性研究。
结果
这对姐妹是文献中少数几例患发作性睡病伴猝倒症且对发作性睡病无“阳性 HLA”的病例。她们有发作性睡病伴猝倒症的典型临床病程，并符合发作性睡病的所有神经生理学诊断标准。
结论
除了已知的可能遗传相似性外，本报告强调了环境因素或未知遗传因素在特定神经 - 免疫 - 遗传背景下起作用并导致发作性睡病的作用。
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