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下丘脑结节病中与1型发作性睡病和中枢性通气不足综合征相关的下丘脑分泌素缺乏

Hypocretin Deficiency Associated with Narcolepsy Type 1 and Central Hypoventilation Syndrome in Neurosarcoidosis of the Hypothalamus.

作者信息

Mayo Mary Catherine, Deng Jane C, Albores Jeffrey, Zeidler Michelle, Harper Ronald M, Avidan Alon Y

机构信息

Department of Neurology, David Geffen School of Medicine at UCLA, Los Angeles, CA.

Division of Pulmonary and Critical Care Medicine, David Geffen School of Medicine at UCLA, Los Angeles, CA.

出版信息

J Clin Sleep Med. 2015 Sep 15;11(9):1063-5. doi: 10.5664/jcsm.5028.

Abstract

We report a case of a 53-year-old man presenting with depressed alertness and severe excessive sleepiness in the setting of neurosarcoidosis. Neuroimaging demonstrated hypothalamic destruction due to sarcoidosis with a CSF hypocretin level of 0 pg/mL. The patient also experienced respiratory depression that presumably resulted from hypocretin-mediated hypothalamic dysfunction as a result of extensive diencephalic injury. This is a novel case, demonstrating both hypocretin deficiency syndrome, as well as respiratory dysfunction from destruction of hypocretin neurons and extensive destruction of key diencephalic structures secondary to the underlying neurosarcoidosis.

摘要

我们报告了一例53岁男性患者,其在神经结节病背景下出现意识水平降低和严重的过度嗜睡。神经影像学显示结节病导致下丘脑破坏,脑脊液中下丘脑分泌素水平为0 pg/mL。患者还出现了呼吸抑制,推测这是由于广泛的间脑损伤导致下丘脑分泌素介导的下丘脑功能障碍所致。这是一个新病例,既表现出下丘脑分泌素缺乏综合征,又因下丘脑分泌素神经元破坏以及潜在神经结节病继发的间脑关键结构广泛破坏而出现呼吸功能障碍。

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