Congenital central hypoventilation syndrome (Ondine's curse syndrome) in two siblings: delayed diagnosis and successful noninvasive treatment.
Congenital central hypoventilation syndrome (CCHS, Ondine's curse syndrome) is a rare respiratory disorder; less than 100 cases have been reported. Familiality of the disease has been discussed, but only few familial cases have been reported so far. In this report we describe the occurrence of CCHS in two male siblings. Diagnosis was established only at the age of 4 years in the first case, although the patient had disease related symptoms since early infancy. The second patient was one of dizygotic twins, he was diagnosed with CCHS at the age of 8 months. Up to that age only moderate desaturations had been observed. The other twin was unaffected by the disease. Both patients were successfully treated by nocturnal positive-pressure ventilation via a specially adapted face mask. They show satisfactory physical and neurologic development.


CONCLUSIONS
Our cases support the assumption of familiality in CCHS although the mode of inheritance remains to be clarified. Polygraphic recordings including capnography should be performed in siblings of CCHS patients early in life in order to avoid secondary complications. Noninvasive treatment by ventilation via special face masks is feasible.
Kerbl
R
R
Department of Paediatrics, University of Graz, Austria.
Litscher
H
H
Grubbauer
H M
HM
Reiterer
F
F
Zobel
G
G
Trop
M
M
Urlesberger
B
B
Eber
E
E
Kurz
R
R
D002648:Child; D002675:Child, Preschool; D004200:Diseases in Twins; D006801:Humans; D011175:Positive-Pressure Respiration; D012891:Sleep Apnea Syndromes / Q000151:congenital / Q000175:diagnosis / Q000628:therapy