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Idiopathic Central Hypoventilation Syndrome is a condition involving the autonomic nervous system, which controls the body's automatic functions, including breathing.
Hypoventilation can derive from Central Causes (the disease is in the brain) or Peripheral Causes (the disease is out of the brain, for example a disease of the muscular strenght)
Central Hypoventilation can be defined Primary or Secondary
Central hypoventilation can be Primary if the disease origins in the brain, and is not caused by other events which interfere with the normal function of the respiratory centres. Central hypoventilation can be Secondary if depends from other ethiologies that interfere with normal functioning (drugs) or that damage the structures regulating breath (Tumours, Vascular diseases, infections, bone compression (Chiari malformation) or Methabolic disorders)
Among the diseases causing primary hypoventilation there are some with a wide spectrum of clinical manifestations and where central hypoventilation is associated to a specific disease (ex.: Prader Willy Syndrome, Wolfran Syndrome, Familial Disautonomia etc). and other whose main evidence is hypoventilation (Central hypoventilation with and without PHOX2B mutation. Central hypoventilation with Hypothalamic Dysfunction)
Central Hypoventilation can sometimes manifest after the first years of life in association to a dysfunction of the hypothalamus.
This syndrome has been defined as LO CHS HD or ROHHAD and is characterized by the association of Obesity, usually with rapid appearance, dysfunction of the hypothalamus and of the autonomic nervous system, Hypoventilation, Tumours of the neural crests
