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Hypocretin-1 deficiency in a girl with ROHHAD syndrome

(2013) PEDIATRICS. 132(3). p.e788-e792
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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.
Keywords
narcolepsy, CHILDREN, cataplexy, orexin, hypocretin, RAPID-ONSET OBESITY, IDIOPATHIC HYPOTHALAMIC DYSFUNCTION, AUTONOMIC DYSREGULATION, CHILDHOOD NARCOLEPSY, OREXIN-A, HYPOVENTILATION, MANIFESTATIONS, CATAPLEXY

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Citation

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MLA
Dhondt, Karlien, et al. “Hypocretin-1 Deficiency in a Girl with ROHHAD Syndrome.” PEDIATRICS, vol. 132, no. 3, 2013, pp. e788–92, doi:10.1542/peds.2012-3225.
APA
Dhondt, K., Verloo, P., Verhelst, H., Van Coster, R., & Overeem, S. (2013). Hypocretin-1 deficiency in a girl with ROHHAD syndrome. PEDIATRICS, 132(3), e788–e792. https://doi.org/10.1542/peds.2012-3225
Chicago author-date
Dhondt, Karlien, Patrick Verloo, Helene Verhelst, Rudy Van Coster, and Sebastiaan Overeem. 2013. “Hypocretin-1 Deficiency in a Girl with ROHHAD Syndrome.” PEDIATRICS 132 (3): e788–92. https://doi.org/10.1542/peds.2012-3225.
Chicago author-date (all authors)
Dhondt, Karlien, Patrick Verloo, Helene Verhelst, Rudy Van Coster, and Sebastiaan Overeem. 2013. “Hypocretin-1 Deficiency in a Girl with ROHHAD Syndrome.” PEDIATRICS 132 (3): e788–e792. doi:10.1542/peds.2012-3225.
Vancouver
1.
Dhondt K, Verloo P, Verhelst H, Van Coster R, Overeem S. Hypocretin-1 deficiency in a girl with ROHHAD syndrome. PEDIATRICS. 2013;132(3):e788–92.
IEEE
[1]
K. Dhondt, P. Verloo, H. Verhelst, R. Van Coster, and S. Overeem, “Hypocretin-1 deficiency in a girl with ROHHAD syndrome,” PEDIATRICS, vol. 132, no. 3, pp. e788–e792, 2013.
@article{4329348,
  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.}},
  author       = {{Dhondt, Karlien and Verloo, Patrick and Verhelst, Helene and Van Coster, Rudy and Overeem, Sebastiaan}},
  issn         = {{0031-4005}},
  journal      = {{PEDIATRICS}},
  keywords     = {{narcolepsy,CHILDREN,cataplexy,orexin,hypocretin,RAPID-ONSET OBESITY,IDIOPATHIC HYPOTHALAMIC DYSFUNCTION,AUTONOMIC DYSREGULATION,CHILDHOOD NARCOLEPSY,OREXIN-A,HYPOVENTILATION,MANIFESTATIONS,CATAPLEXY}},
  language     = {{eng}},
  number       = {{3}},
  pages        = {{e788--e792}},
  title        = {{Hypocretin-1 deficiency in a girl with ROHHAD syndrome}},
  url          = {{http://doi.org/10.1542/peds.2012-3225}},
  volume       = {{132}},
  year         = {{2013}},
}

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