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ROHHAD: Rapid-Onset Obesity With Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Presenting in Childhood

From http://www.medical-library.net/content/view/1018/45/

by Ron Kennedy, M.D., Santa Rosa, CA

First known as Late-Onset Central Hypoventilation Syndrome with Hypothalamic Dysfunction the new name summarizes all the characteristics of this illness without known cause. The main symptoms include:

• 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).