Congenital central hypoventilation syndrome (CCHS) is a rare disorder of central control of ventilation in which patients hypoventilate primarily during sleep, despite the presence of normal neuromuscular and pulmonary system. The pathophysiology
of
CCHS is unknown. Ondine's curse has been linked to Hirschsprung's disease, congenital neurolblastoma, ganglion euroblastoma, lack of heart rate variability. It suggested that the respiratory, cardiac, intestinal abnormality might be the
possibility
of
neuronal crest migrational abnormality in early embryonic development, resulting in disease complex including CCHS. (may be a form of the neurocristopathy).
We experienced 1 bay old male newborn who developed cyanosis, shallow respiration, abdominal distension, diagnosed as congenital central hypoventilation syndrome with total aganglionosis.
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