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What is ROHHAD? PDF Print E-mail
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Saturday, 20 December 2008 01:01
Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation and Autonomic Dysregulation (ROHHAD syndrome) is a very rare syndrome affecting approximately only 35 cases worldwide. Patients with ROHHAD, originally known as Late-Onset Congenital Central Hypoventilation Syndrome, CCHS, have damaged the mechanism governing the proper breathing. ROHHAD syndrome is a disease that is potentially life threatening and incurable.   There are many symptoms included in ROHHAD which you can view in the info page.  Below are the main symptoms:
  • sudden weight gain
  • failure to grow taller
  • fatigue
  • being extra sweaty (but not feeling extra thirsty - can lead to severe dehydration)
  • exra large pupils
  • absence of automatically breathing deeply enough to exhale carbon dioxide and take in enough oxygen (not feeling short of breath when this happens - can lead to respiratory arrest)

While it is clear that the brain does not register elevated levels of carbon dioxide in the blood (the method the body uses to regulate breathing) and that the hypothalamus is involved in the other aspects of this syndrome, nevertheless the exact cause of this disorder is not yet known; and it is witheringly rare with only a handful of identified cases. As the symptoms can be very subtle at first, it may go undiagnosed until respiratory failure occurs. Traditional treatment involves a permanent tracheostomy with forced automated breathing. A newer idea for treatment involves an implanted electical stimulation device to rhythmically stimulate the phrenic nerve (which controls the diaphagm and thus breathing).

The Doctor's Medical Library
-by Ron Kennedy, M.D., Santa Rosa, CA

 

Last Updated on Sunday, 21 December 2008 21:19
 
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