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)

We report on a 45-year old woman with daytime sleepiness, polycythemia, hypoxemia and hypercapnia, admitted to hospital on three occasions in a 10 month period for acute respiratory failure. Polysomnography demonstrated apneas of central type, testing of the respiratory drive suggested central alveolar hypoventilation and magnetic resonance imaging showed an Arnold-Chiari malformation with syringomyelia. The originality of this case is the absence of any neurologic sign, respiratory failure being the sole manifestation of the Arnold-Chiari malformation.
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PMID:[Isolated respiratory insufficiency in Arnold-Chiari malformation]. 892

We present the case of a young adult with type I Arnold-Chiari malformation (AMC1) and syringomyelia who developed central sleep apnoea and chronic respiratory failure, successfully treated with nocturnal noninvasive positive pressure ventilation ventilation (NIPPV). An extensive syringomyelic cavity (from bulbar to L4 segment) with severe impairment of the IX cranial nerve was documented and remains, although reduced, after the neurosurgical treatment. At baseline evaluation, the patient showed a moderate restrictive ventilatory defect, severe hypercapnic respiratory failure, abnormal control of breathing characterized by the absence of response to hypoxia and hypercapnia, and severe nocturnal central apnoeas. Nocturnal NIPPV was then started in the A/C mode with an improvement in blood gas values. Further evaluations were performed 10 and 18 months later. A progressive significant improvement of lung volumes, both in sitting and supine position, associated with a slight improvement of blood-gas values were observed. Nonetheless, the breathing pattern abnormalities persisted. Polysomnographic evaluation during mechanical ventilation showed a normalization of breathing pattern with arterial oxygen saturation (SaO2) > 90% throughout the night.
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PMID:Chronic respiratory failure in a patient with type I Arnold-Chiari malformation (ACM1) and syringomyelia. 968 98

We present a case of a 17-year-old Hispanic male with Arnold-Chiari Type 1 [AC-Type 1] with syringomyelia, status post decompression, who complains of exercise intolerance, headaches, and fatigue with exertion. The patient was found to have diurnal hypercapnia and nocturnal alveolar hypoventilation. Cardiopulmonary testing revealed blunting of the ventilatory response to the rise in carbon dioxide (CO2) resulting in failure of the parallel correlation between increased CO2 levels and ventilation; the expected vertical relationship between PETCO2 and minute ventilation during exercise was replaced with an almost horizontal relationship. No new pathology of the brainstem was discovered by MRI or neurological evaluation to explain this phenomenon. The patient was placed on continuous noninvasive open ventilation (NIOV) during the day and CPAP at night for a period of 6 months. His pCO2 level decreased to normal limits and his symptoms improved; specifically, he experienced less headaches and fatigue during exercise. In this report, we describe the abnormal response to exercise that patients with AC-Type 1 could potentially experience, even after decompression, characterized by the impairment of ventilator response to hypercapnia during exertion, reflecting a complete loss of chemical influence on breathing with no evidence of abnormality in the corticospinal pathway.
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PMID:Unusual Ventilatory Response to Exercise in Patient with Arnold-Chiari Type 1 Malformation after Posterior Fossa Decompression. 2741 95