Chest
Volume 96, Issue 2, August 1989, Pages 423-424
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Congenital Central Hypoventilation Syndrome Associated With Multiple Ganglioneuromas

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A five-year-old girl had congenital central hypoventilation syndrome and mediastinal and adrenal tumors. The mediastinal mass was thought to be present, retrospectively, for at least four years prior to surgery. Pathology of the excised tumors revealed benign ganglioneuromas. This is the first case reported of an association between CCHS and multiple ganglioneuromas. This suggests that CCHS, like neural crest tumors, may result from maldevelopment of the embryonic neural crest. (Chest 1989; 96:423–24)

Section snippets

CASE REPORT

The patient was the product of a full term pregnancy and normal delivery with Apgar score 9,9; she weighed 7 lbs 9 oz. She became dusky two hours after birth and continued to have several apneic spells thereafter. She was admitted to CHLA at the age of one month. She was diagnosed as having CCHS and received a tracheostomy and mechanical assisted ventilation while asleep. Her initial EEG, cranial ultrasound, and CT scan were normal. Cardiac echo done at the age of four months revealed mild

DISCUSSION

The CCHS, synonymous with Ondines curse, is a rare disorder of respiratory control. In the classic form, affected children have adequate minute ventilation during wakefulness but develop progressive hypoxia and hypercapnia during quiet sleep. The primary derangement is believed to result from failure of central chemoreceptors located in the ventrolateral area of the medulla.

The CCH syndrome has been associated with Hirsch-Sprung's disease,1,3,4,5 neuroblastoma,1,2 ganghoneuroblastoma,2and lack

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