[Home artificial respiration in a girl with Ondine-Hirschsprung syndrome (Haddad's syndrome)].
A case of 5.5-year-old girl with Haddad syndrome (congenital central hypoventilation syndrome-CCHS or Ondine's curse and Hirschsprung's disease) is presented. At the age of 1.5 months, due to severe colonic aganglionosis, temporary colostomy was performed. At the age of 4.5 years the sigmoid colon and left colon were resected and temporary colostomy was closed. Since birth, the sleep central hypoventilation characterized with shallow respirations and frequent apnoeas was noticed. The child's life was compromised and therefore the postoperative recovery was complicated and prolonged. Cardiac exam showed initial signs of pulmonary hypertension and right-sided failure. At the age of 4.5 years assisted positive pressure ventilation via face mask, with transportable ventilator was initiated during sleep and was successfully performed at home. Since then the cardiac exam showed no abnormalities. There are no significant abnormalities at neurological exam while EEG shows minimal irritative changes. The girl's physical and psychomotoric development is progressive and she is having an excellent peer contact. We expect even better quality of life after the implantation of the diaphragmatic pacemaker which is planned at early school age.
Senecić
I
I
Klinicki bolnicki centar Zagreb, Klinika za pedijatriju, Odjel za djecju gastroenterologiju, Kispatićeva 12, 10000 Zagreb.
Dujsin
M
M
Vuković
J
J
Sarić
D
D
Filipović-Grcić
B
B
D002675:Child, Preschool; D005260:Female; D006627:Hirschsprung Disease / Q000150:complications*; D006699:Home Care Services; D006801:Humans; D011175:Positive-Pressure Respiration; D020182:Sleep Apnea, Central / Q000150:complications / Q000151:congenital / Q000628:therapy*