Abstract
Central hypoventilation syndrome, a rare disorder of unknown etiology, can be associated with other manifestations of autonomic maldevelopment, chiefly Hirsehsprung's disease. A 35 week gestational age female with a small jaw and cleft hard palate was evaluated for central hypoventilation syndrome over the course of one month. The child had little response to CO2 which was only mininally enhanced by therapeutic levels of caffeine and progesterone. In addition, she also had further evidence of diffuse autonomic dysfunction which included; electrophysiologic studies which suggested a denervated heart, unresponsive persistently dilated pupils and an exceptionally prolonged small intestinal transit time (2-3weeks). Following her death, an autopsy revealed reduced numbers of ganglion cells in the enteric plexuses in the esophagus, stomach and duodenum and none distal to this point. With the exception of the rectum, the pelvic viscera (bladder and uterus) had normal numbers of ganglion cells. While the intracardiac conduction system was normal, no ganglion cells could be demonstrated in the cardiac plexus. Compared to other infants of the same developmental age, her thyroid gland had a noticeable decrease in calcitonin immunoreactive cells. Her brain and brainstem were normal except for a mild diffuse increase in microglia in the medulla. The quail-chick chimera technique has provided data on the derivatives of rhombencephalic neural crest. All of the abnormalities in this child, and perhaps other children with central hypoventilation syndrome, can be explained by postulating an early developmental defect in neural crest migration from this area.
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Johnson, D., Burke, B. CENTRAL HYPOVENTILATION SYNDROME RESULTS FROM THE ANOMALOUS DEVELOPMENT OF THE RHOMBENCEPHALIC NEURAL CREST. Pediatr Res 21 (Suppl 4), 216 (1987). https://doi.org/10.1203/00006450-198704010-00299
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DOI: https://doi.org/10.1203/00006450-198704010-00299