Hypocretin-1 deficiency in a girl with ROHHAD syndrome

K. Dhondt, P. Verloo, H. Verhelst, R. Van Coster, S. Overeem

Research output: Contribution to journalArticleAcademicpeer-review

14 Citations (Scopus)
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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.

Original languageEnglish
Pages (from-to)e788-92
JournalPediatrics
Volume132
Issue number3
DOIs
Publication statusPublished - Sep 2013
Externally publishedYes

Keywords

  • Child
  • Diagnosis, Differential
  • Fatal Outcome
  • Female
  • Heart Arrest
  • Humans
  • Hypothalamic Diseases
  • Hypoventilation
  • Intracellular Signaling Peptides and Proteins
  • Narcolepsy
  • Neuropeptides
  • Obesity
  • Orexins
  • Polysomnography
  • Puberty, Precocious
  • Sleep Apnea, Central
  • Sleep Wake Disorders
  • Case Reports
  • Journal Article

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