CAPS original papers
Diaphragmatic pacing for the treatment of congenital central alveolar hypoventilation syndrome

https://doi.org/10.1016/j.jpedsurg.2007.12.013Get rights and content

Abstract

Purpose

The congenital central alveolar hypoventilation syndrome (CCAHS), also known as Ondine curse, is characterized by the absence of adequate autonomic control of respiration.

The purpose of our study is to review our 20-year experience with diaphragmatic pacing as a treatment modality for CCAHS.

Methods

After obtaining institutional review board approval, the medical records of all 6 patients who currently are in the diaphragmatic pacing program at the Montreal Children's Hospital, Montreal, QC, Canada were reviewed. In addition to demographic details, associated anomalies were noted. Data regarding age at surgery, technical approach, and short- and long-term complications, including equipment failure and replacement, were noted. We were interested in the long-term outcome for this group of patients, particularly their quality of life.

Results

Our group of patients is composed of 4 females and 2 males. Their age ranges between 4 and 23 years. They were operated on at an average age of 47.8 months. The surgical approach used was mainly bilateral axillary thoracotomy. Internal component failure is the most common complication. All patients are ventilator free during the day. They all are active and productive, either attending school or working full time.

Conclusion

Diaphragmatic pacing is an effective treatment of Ondine disease. As equipment improved, there is much less need for replacement of components. Patients can lead a much more normal existence by being ventilator free at least during the day, enabling them to participate in normal daily activities.

Section snippets

Materials and methods

The records of the 6 patients who are in the diaphragmatic pacing program at the Montreal Children's Hospital, Montreal, QC, Canada were reviewed. In addition to demographic details, associated anomalies were noted. Data regarding age at surgery, technical approach, and short- and long-term complications, including equipment failure and replacement, were recorded. All 6 patients had primary CCAHS diagnosed during the first few weeks of life. The assessment included neurologic evaluation and

Results

Of the 6 patients studied, there were 4 females and 2 males (Table 1). The age at insertion of the pacer was between 1.5 and 8 years (mean = 4 years) (Fig. 2).

Pacing was attempted 1 week after the surgical procedure in all patients. In none of the cases did primary nonfunction of a pacemaker occur.

After the initial recovery, patients start a phase of diaphragmatic conditioning, which involves progressive increments in the length of time the phrenic nerve is paced. Diaphragmatic conditioning is

Discussion

Congenital central alveolar hypoventilation syndrome is a rare respiratory disorder characterized by varying degrees of abnormal ventilation when the patient is awake and a completely insufficient response to hypoxia and hypercapnia during sleep, regardless of the absence of pulmonary or neuromuscular disease.

The cause of this disease results from failure of autonomic control of ventilation. The region of primary involvement is probably the central neurons of the medulla, especially the carbon

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Presented at the 39th Annual Meeting of the Canadian Association of Pediatric Surgeons, August 23-26, 2007, St John's Newfoundland, Canada.

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