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Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation

Abstract

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NORD is very grateful to Sally F. Vitez, BA, Center for Autonomic Medicine in Pediatrics (CAMP), Ann & Robert H. Lurie Children's Hospital of Chicago; Diego Ize-Ludlow, MD, Assistant Professor of Pediatrics, University of Illinois at Chicago; Casey M. Rand, BS, Center for Autonomic Medicine in Pediatrics (CAMP), Ann & Robert H. Lurie Children's Hospital of Chicago; and Debra E. Weese-Mayer, MD, Professor of Pediatrics at Northwestern University Feinberg School of Medicine and Chief, Center for Autonomic Medicine in Pediatrics (CAMP), Ann & Robert H. Lurie Children's Hospital of Chicago, for assistance in the preparation of this report.

Synonyms of Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation

  • late onset central hypoventilation syndrome with hypothalamic dysfunction
  • LO-CCHS/HD
  • regulation with neural tumor

Disorder Subdivisions

  • ROHHADNET

General Discussion

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) is a rare disorder of respiratory control and autonomic nervous system (ANS) regulation, with endocrine system abnormalities. Respiratory control is the automatic function of breathing in response to varied activities of daily living (ex. exercise, sleep, eating), so within the context of the ANS. The ANS is the portion of the nervous system that controls or regulates many involuntary body functions including heart rate, blood pressure, temperature regulation, bowel and bladder control, breathing, and more. The endocrine system is regulated by the hypothalamus, and through hormones it controls growth, energy and water balance, sexual maturation and fertility as well as response to stress.

ROHHAD presents after 1.5 years of age, in otherwise healthy children. The rapid-onset weight gain (often 30 pounds in 6-12 months) is typically the herald of the disease and the harbinger of the later features of the ROHHAD phenotype. The acronym ROHHAD describes the typical sequence of symptoms experienced by most children with ROHHAD, in the order of their appearance. The clinical features of ROHHAD seem to “unfold” with advancing age in each child. ROHHAD was first described in 1965 (albeit under a different name) and since that time at least 100 children have been reported in the literature or identified with this disorder. Because of the high prevalence of cardiorespiratory arrest, early recognition and treatment of the symptoms associated with ROHHAD are essential and may be life-saving.

Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Resources

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