{"title":"\"哦,我熟睡的孩子\"......一名 22 个月大男孩的 1 型嗜睡症","authors":"Barbra Giourgas, Alexandra Morgan, Sonal Bhatia","doi":"10.1177/2329048x231225916","DOIUrl":null,"url":null,"abstract":"Pediatric narcolepsy is a complex disorder with unique diagnostic challenges. It is diagnosed with a combination of clinical presentation, polysomnogram with multiple sleep latency test (PSG with MSLT), and occasionally, hypocretin-1 (orexin) levels in the cerebrospinal fluid (CSF). This report describes a 22-month-old boy experiencing excessive daytime sleepiness (EDS) and frequent falls. The patient was subsequently diagnosed with narcolepsy using hypocretin-1 (orexin) levels. The intent of this report is to establish the utility of using hypocretin-1 (orexin) levels to diagnose narcolepsy type 1 in children who are too young to undergo PSG with MSLT. To our knowledge, there are no reports of narcolepsy in a patient this young. Early recognition and treatment of narcolepsy in children younger than age five may lead to a substantial impact on their cognitive development and minimize potential long- term complications.","PeriodicalId":72572,"journal":{"name":"Child neurology open","volume":"90 7","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"“Oh My Sleeping Child” … Narcolepsy Type 1 in a 22-Month-Old Boy\",\"authors\":\"Barbra Giourgas, Alexandra Morgan, Sonal Bhatia\",\"doi\":\"10.1177/2329048x231225916\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Pediatric narcolepsy is a complex disorder with unique diagnostic challenges. It is diagnosed with a combination of clinical presentation, polysomnogram with multiple sleep latency test (PSG with MSLT), and occasionally, hypocretin-1 (orexin) levels in the cerebrospinal fluid (CSF). This report describes a 22-month-old boy experiencing excessive daytime sleepiness (EDS) and frequent falls. The patient was subsequently diagnosed with narcolepsy using hypocretin-1 (orexin) levels. The intent of this report is to establish the utility of using hypocretin-1 (orexin) levels to diagnose narcolepsy type 1 in children who are too young to undergo PSG with MSLT. To our knowledge, there are no reports of narcolepsy in a patient this young. Early recognition and treatment of narcolepsy in children younger than age five may lead to a substantial impact on their cognitive development and minimize potential long- term complications.\",\"PeriodicalId\":72572,\"journal\":{\"name\":\"Child neurology open\",\"volume\":\"90 7\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Child neurology open\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1177/2329048x231225916\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Child neurology open","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1177/2329048x231225916","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
摘要
小儿嗜睡症是一种复杂的疾病,具有独特的诊断难题。诊断时要综合考虑临床表现、多导睡眠图和多重睡眠潜伏期测试(PSG with MSLT),有时还要考虑脑脊液(CSF)中的视网膜下素-1(orexin)水平。本报告描述了一名 22 个月大的男孩白天过度嗜睡(EDS)和频繁跌倒的情况。根据脑脊液中的降视素-1(orexin)水平,患者随后被诊断为嗜睡症。本报告旨在确定使用下视蛋白-1(orexin)水平诊断年龄太小无法接受 MSLT PSG 的儿童嗜睡症 1 型的实用性。据我们所知,目前还没有关于如此年幼的嗜睡症患者的报道。对五岁以下儿童的嗜睡症进行早期识别和治疗,可能会对他们的认知发展产生重大影响,并将潜在的长期并发症降至最低。
“Oh My Sleeping Child” … Narcolepsy Type 1 in a 22-Month-Old Boy
Pediatric narcolepsy is a complex disorder with unique diagnostic challenges. It is diagnosed with a combination of clinical presentation, polysomnogram with multiple sleep latency test (PSG with MSLT), and occasionally, hypocretin-1 (orexin) levels in the cerebrospinal fluid (CSF). This report describes a 22-month-old boy experiencing excessive daytime sleepiness (EDS) and frequent falls. The patient was subsequently diagnosed with narcolepsy using hypocretin-1 (orexin) levels. The intent of this report is to establish the utility of using hypocretin-1 (orexin) levels to diagnose narcolepsy type 1 in children who are too young to undergo PSG with MSLT. To our knowledge, there are no reports of narcolepsy in a patient this young. Early recognition and treatment of narcolepsy in children younger than age five may lead to a substantial impact on their cognitive development and minimize potential long- term complications.