Abstract
Investigators at Ghent University Hospital, Belgium; Radboud University Nijmegen Medical Centre, and Sleep Medicine Centre, Heeze, Netherlands, report a 7-year-old girl with rapid-onset obesity, hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD syndrome).
Highlights
Investigators at Ghent University Hospital, Belgium; Radboud University Nijmegen Medical Centre, and Sleep Medicine Centre, Heeze, Netherlands, report a 7year-old girl with rapid-onset obesity, hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD syndrome)
Reported as Ondine’s curse, or primary alveolar hypoventilation syndrome, and presenting at birth (Fishman LS, et al Am J Dis Child 1965 Aug;110(2):155-61), the association of rapidonset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation is of late onset and has the acronym, ROHHAD (Rand CM et al Pediatr Res 2011 Oct;70(4):375-8)
PHOX2B sequencing, the disease-causing gene in congenital central hypoventilation syndrome, revealed no mutations, demonstrating that late-onset ROHHAD is distinct from the congenital syndrome (Ize-Ludlow D, Gray JA, Sperling MA, et al Pediatrics 2007 Jul;120(1):e179-88)
Summary
Investigators at Ghent University Hospital, Belgium; Radboud University Nijmegen Medical Centre, and Sleep Medicine Centre, Heeze, Netherlands, report a 7year-old girl with rapid-onset obesity, hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD syndrome). In addition to dysfunction of endocrine, respiratory, and autonomic nervous systems, the patient developed daytime sleepiness, visual hallucinations, and episodic loss of facial muscle tone with slurred speech, suggestive of secondary narcolepsy and cataplexy. Hypocretin-1 deficiency in a girl with ROHHAD syndrome.
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