CONGENITAL CENTRAL HYPOVENTILATION SYNDROME (ONDINES CURSE SYNDROME) IN 2 SIBLINGS - DELAYED DIAGNOSIS AND SUCCESSFUL NONINVASIVE TREATMENT

Congenital central hypoventilation syndrome (CCHS, Ondine's curse synd rome) is a rare respiratory disorder; less than 100 cases have been re ported. Familiality of the disease has been discussed, but only few fa milial cases have been reported so far. In this report we describe the occurrence of CCHS in two male siblings. Diagnosis was established on ly at the age of 4 years in the first case, although the patient had d isease related symptoms since early infancy. The second patient was on e of dizygotic twins, he was diagnosed with CCHS at the age of 8 month s. Up to that age only moderate desaturations had been observed. The o ther twin was unaffected by the disease. Both patients were successful ly treated by nocturnal positive-pressure ventilation via a specially adapted face mask. They show satisfactory physical and neurologic deve lopment. Conclusion Our cases support the assumption of familiality in CCHS although the mode of inheritance remains to be clarified. Polygr aphic recordings including capnography should be performed in siblings of CCHS patients early in life in order to avoid secondary complicati ons. Noninvasive treatment by ventilation via special face masks is fe asible.