A case of congenital central hypoventilation syndrome.

We encountered a 2-year-old female infant with congenital central hypoventilation syndrome (CCHS) who underwent an abdominal operation for strangulated ileus. Prior to the surgery, at home, the infant had been receiving non-invasive positive-pressure ventilation (NPPV) support only during sleep. However, after postoperative extubation, the blood oxygen saturation (SpO(2)) decreased to approximately 90 % with NPPV during sleep alone, necessitating the use of biphasic cuirass ventilation (BCV) along with NPPV for 2 days. The infant was weaned from the BCV on hospital day 9, and was discharged from the intensive care unit (ICU) on hospital day 13. Although it has been said that CCHS is not under the control of the respiratory center, there are no reports of the true CO(2) response curves in these patients. Therefore, during respiratory management in the ICU post-surgery, we examined (with the consent of the mother) the relationship of the end-tidal carbon dioxide (ETCO(2)) to the tidal volume and respiratory rate, for a period of 6 min in the absence of sedation, using a respiratory profile monitor. Electrocardiographic and SpO(2) monitoring was also conducted at the same time, to ensure the patient's safety. In this patient, while the ETCO(2) increased, the tidal volume and respiratory rate remained unchanged. No relationship was found between the tidal volume and the respiratory rate. Various modalities have been used for the treatment of CCHS (tracheotomy, NPPV, and diaphragmatic pacing). Treatment of these patients in the ICU should be tailored to the needs of individual patients and their families.