Central alveolar hypoventilation in a child: an evaluation using a whole body plethysmograph.

A disorder in the central nervous system control of breathing is thought to be responsible for the clinical syndrome of "primary" or central alveolar hypoventilation. Only 2 of the 7 reported cases in children have included any functional evaluation of this control system disorder. We report the case of a 2-year-old girl with central alveolar hypoventilation attributed to an abnormality in be central nervous system of unknown etiology. In evaluating her ventilatory control system, we used a method (whole body pleildren and small animals but has since received little clinical use. The findings included an irregular respiratory rhythm and a diminished ventilatory response to inhaled CO2, which suggested a functional abnormality of brainstem neurons responsible for rhythmic effective breathing and the CO2 response. A relatively normal change in breathing with sleep and exercise as well as qualitively normal peripheral chemoreceptor function suggested that these aspects of the control system were undisturbed. These findings are contrasted to those in other children; it is suggested that the syndrome of central alveolar hypoventilation may reflect a variety of functional abnormalities in the nervous system control of ventilation.