PEDIATRICS Vol. 80 No. 3 September 1987, pp. 375-380
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Long-Term Follow-up of Children With Congenital Central Hypoventilation Syndrome

Joseph Oren MD1, Dorothy H. Kelly MD1, and Daniel C. Shannon MD1

1 From the Pediatric Pulmonary Unit, Massachusetts General Hospital and the Department of Pediatrics, Harvard Medical School, Boston

The long-term clinical course of six patients with congenital central hypoventilation syndrome is described. During the neonatal period, the patients had prolonged apneas and hypoventilation, in the absence of cardiac, pulmonary, or neuromuscular disease. After an initial period of respirator dependency, they became able to sustain normal gas exchange while awake. During sleep, however, profound hypoventilation developed, and tracheostomy and mechanical ventilation were required. Ventilatory responses to hypercapnia and hypoxia were depressed or absent and did not improve with time. One patient was able, at 2 years of age, to breathe spontaneously during sleep with only moderate hypoventilation. The others, now 4 to 14 years of age, still need ventilatory support during sleep. Complications, such as cardiac failure and hypoxic seizures, mostly occurred early in the course and resolved with correction of insufficient mechanical ventilation. Speech acquisition was possible with the use of a special stoma plug. All patients were managed at home, and with appropriate support, the parents were able to provide safe ventilatory care with low morbidity and no mortality.

Key Words: congenital central hypoventilation syndrome • apnea • home respiratory care

Accepted on December 3, 1986




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