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A Case of Off-label Sodium Oxybate in an 11-Year-Old with Narcolepsy

机译:11例发作性睡病超标含氧酸钠一例

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摘要

Narcolepsy is a rare chronic condition which affects sleep architecture. It may manifest in childhood or adolescence by causing excessive daytime sleepiness, sleep attacks, and hallucinations. Research suggests that there is a significant delay in diagnosis with the mean age being 10 to 15 years from onset of symptoms. Although narcolepsy is predominantly associated with loss of hypocretin (orexin), the role of genetics is complementary to the diagnosis. In addition, clinical manifestations of symptoms vary in presentation and severity from case to case. Therefore, this report provides an opportunity to review pediatric narcolepsy including the diagnostic workup and clinical response to sodium oxybate. This particular case describes an 11-year-old boy meeting the clinical and diagnostic criteria for narcolepsy. Clinically, the patient had a very positive response to treatment with sodium oxybate, which at the time of initiating therapy was off-label for patients under the age of 18.
机译:发作性睡病是一种罕见的慢性病,​​会影响睡眠结构。它可能通过引起白天过多的嗜睡,睡眠发作和幻觉而在儿童期或青春期出现。研究表明,从出现症状开始,诊断的平均时间为10至15岁,显着延迟了诊断时间。虽然发作性睡病主要与促胰激素(orexin)的丧失有关,但是遗传学的作用是诊断的补充。此外,症状的临床表现在不同情况下的表现形式和严重程度也各不相同。因此,本报告提供了一个机会来审查小儿发作性睡病,包括诊断检查和对羟丁酸钠的临床反应。这个特殊病例描述了一个满足发作性睡病临床和诊断标准的11岁男孩。临床上,该患者对羟丁酸钠的治疗反应非常积极,在开始治疗时,对于18岁以下的患者来说是标签以外的。

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