Abstract
Central hypoventilation syndrome may be congenital or appear later in life. At least two heritable forms have been reported. We have previously documented central alveolar hypoventilation in association with pyruvate dehydrogenase complex deficiency. In addition, a syndrome including congenital central hypoventilation, Hirschsprung's megacolon and disturbance of esophageal motility has been described in two infant sisters and an unrelated boy. We herein report congenital central hypoventilation in both a 4½ month old girl and her (deceased) 3½ month old brother. Almitrine, a peripheral chemoreceptor stimulant, did not affect respiration in the former. While the girl also manifested disturbed esophageal motility and Hirschsprung's disease, pre- and post-mortem histologic study of the large and small intestine revealed no abnormalities of ganglion cells. We conclude that the aggregate data support autosomal recessive inheritance for this syndrome. Further, the syndrome manifestations are variable in their expressivity, and the disorder—with its attendant 25% recurrence risk—must certainly be considered in babies with congenital central hypoventilation.
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Korenberg, J., Newth, C., Allerding, T. et al. 837 CONGENITAL CENTRAL HYPOVENTILATION SYNDROME: AN AUTOSOMAL RECESSIVE FORM WITH VARIABLE EXPRESSIVITY. Pediatr Res 19, 250 (1985). https://doi.org/10.1203/00006450-198504000-00867
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DOI: https://doi.org/10.1203/00006450-198504000-00867