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Off-label Sodium Oxybate in Childhood Narcolepsy: A Comprehensive Report

机译:儿童发作性睡病的标签外含氧酸钠:综合报告

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摘要

Narcolepsy is a sleep disorder that can manifest in childhood or adolescence by causing excessive sleepiness, hallucinations, sleep attacks, or cataplexy. There is often a significant delay in diagnosis with the mean time being 15 years from the onset of symptoms, which may lead to further exacerbations and a high comorbidity burden. Although narcolepsy is predominantly associated with loss of hypocretin (orexin), the role of genetics is poorly understood and, therefore, is complementary to the diagnosis but not confirmatory. We present the case of a child who was misdiagnosed as suffering from schizophrenia only to later uncover narcolepsy with cataplexy. Even though she did not meet strict criteria for narcolepsy type 1, her history and objective data were consistent enough to make an official diagnosis. In addition, her clinical response to treatment was very positive, further supporting narcolepsy as the most likely underlying condition. This presentation highlights the importance of continued education and research to reduce the risk of delay in diagnosis or misdiagnosis.
机译:发作性睡病是一种睡眠障碍,可通过引起过度的嗜睡,幻觉,睡眠发作或瘫痪而出现在儿童期或青春期。从出现症状开始,诊断通常会明显延迟,平均时间为15年,这可能导致进一步加重病情和合并症负担。尽管发作性睡病主要与降钙素(orexin)的丧失有关,但对遗传学的作用了解甚少,因此是诊断的补充,但不能证实。我们介绍了一个儿童被误诊为精神分裂症的案例,后来才发现患有发作性痴呆的发作性睡病。即使她不符合发作性睡病1型的严格标准,她的病史和客观数据也足以进行正式诊断。此外,她对治疗的临床反应非常积极,进一步支持了发作性睡病作为最可能的潜在疾病。本演讲强调了继续教育和研究对减少诊断或误诊延迟风险的重要性。

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