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- aggregation classification "A1".
- aggregation creator B831334.
- aggregation creator person.
- aggregation creator person.
- aggregation creator person.
- aggregation creator person.
- aggregation date "2013".
- aggregation format "application/pdf".
- aggregation hasFormat 4329348.bibtex.
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- aggregation hasFormat 4329348.dc.
- aggregation hasFormat 4329348.didl.
- aggregation hasFormat 4329348.doc.
- aggregation hasFormat 4329348.json.
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- aggregation hasFormat 4329348.yaml.
- aggregation isPartOf urn:issn:0031-4005.
- aggregation language "eng".
- aggregation rights "I have transferred the copyright for this publication to the publisher".
- aggregation subject "Biology and Life Sciences".
- aggregation title "Hypocretin-1 deficiency in a girl with ROHHAD syndrome".
- aggregation abstract "Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) is a rare and complex pediatric syndrome, essentially caused by dysfunction of 3 vital systems regulating endocrine, respiratory, and autonomic nervous system functioning. The clinical spectrum of ROHHAD is broad, but sleep/wake disorders have received relatively little attention so far, although the central hypothalamic dysfunction would make the occurrence of sleep symptoms likely. In this case report, we expand the phenotype of ROHHAD with a number of striking sleep symptoms that together can be classified as a secondary form of narcolepsy. We present a 7-year-old girl with ROHHAD who displayed the classic features of narcolepsy with cataplexy: excessive daytime sleepiness with daytime naps, visual hallucinations, and partial cataplexy reflected in intermittent loss of facial muscle tone. Nocturnal polysomnography revealed sleep fragmentation and a sleep-onset REM period characteristic for narcolepsy. The diagnosis was confirmed by showing an absence of hypocretin-1 in the cerebrospinal fluid. We discuss potential pathophysiological implications as well as symptomatic treatment options.".
- aggregation authorList BK1204822.
- aggregation endPage "e792".
- aggregation issue "3".
- aggregation startPage "e788".
- aggregation volume "132".
- aggregation aggregates 4329365.
- aggregation isDescribedBy 4329348.
- aggregation similarTo peds.2012-3225.
- aggregation similarTo LU-4329348.