Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020440 (hypercapnia)
 7,939 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Rhombencephalic failure of the suction-swallowing, excess of central and obstructive ventilatory arrests with hypoxia and hypercapnia, vagal hypertonia and esophagogastric motor abnormalities are the new clinical signs observed in children presenting with the Pierre Robin's syndrome. A therapeutic management adapted to each of the types I, II, III of the syndrome were defined and a good nursery-nursing allowed a reduction in the mortality-rate from 27 to 5%. Still considered by some as a malformative and glossoptosing disorder whose etiology is only bucco-pharyngeal in origin, this syndrome, common to numerous embryopathies, is a precocious embryonal abnormality of the brain stem neurogenesis, expressed by the dramatic failure of the physiological oro-ventilation system. This syndrome appears to be a peculiar form of dysautonomia of the brain stem development with an uncertain future, often transitory, isolated or associated but in the heart of pediatric internal medicine and its multi-disciplinarity.
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PMID:[The Pierre-Robin syndrome. Classification and new therapeutic approach]. 321 49

Five infants with Pierre Robin syndrome developed evidence of carbon dioxide retention and congestive cardiac failure despite measures to alleviate upper airway obstruction. Investigations included chest radiography, electrocardiography, echocardiography, and cardiac catheterization; pulmonary hypertension was diagnosed. In two cases raised main pulmonary artery pressures of 40 mm Hg and 120 mm Hg were recorded. Relief of upper airway obstruction was achieved by tracheostomy in three cases and nasopharyngeal intubation in two cases, with reversal of signs of cor pulmonale in each. Four patients progressed well with no recurrence of cardiac problems but one died suddenly one month after apparently successful management by tracheostomy.
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PMID:Pierre Robin syndrome and pulmonary hypertension. 388 27

The clinical and physiologic features of 28 infants with Pierre Robin syndrome and those of 20 infants with various types of nasal obstruction were reviewed to determine whether different causes of upper airway obstructure may lead to a common syndrome. The patients had no significant differences in distribution of main clinical manifestations. Their features included cyanosis with respiratory distress, apneic spells, oropharyngeal dysphagia, vomiting, failure to thrive, cor pulmonale, brain damage, and sudden death during sleep. The common physiologic manifestation appeared to be an oropharyngeal obstruction caused by glossoptosis, which occurred mainly during wakefulness. Upper airway obstruction led to hypoxemia, which, in many instances, was not associated with hypercapnia and was not relieved by oxygen administration. It is concluded that regardless of a specific cause, any airway obstruction that results in a decreased inspiratory pressure overcoming the airway maintaining genioglossus action causes a glossoptosis-apnea syndrome.
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PMID:Glossoptosis-apnea syndrome in infancy. 399 Dec 69