1/18. Congenital myasthenic syndrome with sleep hypoventilation.We report the case of a 13-year-old boy with acetylcholinesterase deficiency, a congenital myasthenic syndrome, who developed sleep hypoventilation syndrome during a period of rapid growth. His symptoms were insidious and life-threatening despite changes in strength or lung volume measurements that were not marked. He responded well to noninvasive nocturnal ventilation, with reversal of symptoms and normalization of blood gases. His lung volumes, but not motor function, improved after treatment.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
2/18. Unexpectedly severe sleep and respiratory pathology in patients with amyotrophic lateral sclerosis.Daytime fatigue and sleep disturbance are frequent complaints in patients with amyotrophic lateral sclerosis (ALS). However, polysomnographic data are sparse. Nocturnal respiratory insufficiency may occur despite nearly normal daytime pulmonary function. We describe the clinical presentation and polysomnographic findings in two patients with clinically and electrophysiologically confirmed ALS with minimal weakness but excessive daytime sleepiness. polysomnography in the first patient showed a respiratory disturbance index of 43.5, and profound oxygen desaturations to 62%. The second patient had prolonged periods of hypoventilation, with oxygen saturations oscillating between 86 and 83%. Both patients showed severe sleep maintenance insomnia with a sleep efficiency < 40% and frequent arousals while asleep. Application of continuous positive airway pressure (CPAP) restored normal nocturnal ventilation, blood oxygenation and sleep parameters in the first patient; compliance, however, was poor. The second patient was unable to tolerate CPAP. We conclude that ALS patients with excessive daytime sleepiness or insomnia should undergo polysomnography to adequately diagnose nocturnal respiratory insufficiency and sleep disturbance. compliance with treatment, however, may be poor.- - - - - - - - - - ranking = 81.194302721088keywords = oxygen (Clic here for more details about this article) |
3/18. Hypoxic ventilatory depression in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes.We describe a case of a 21-year-old man with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) who presented with hypoxic ventilatory depression. He had chronic hypoventilation, which was not explained by weakness of respiratory muscles. His hypercapnic ventilatory response was not impaired. In contrast, hypoxic ventilatory depression was observed in the isocapnic progressive hypoxic response test. After exposure to hypoxic conditions, his respiratory frequency decreased and tidal volume was unchanged. The hypoxic ventilatory depression was partially blocked by pretreatment with aminophylline. In conclusion, we need to be careful with patients with MELAS who are hypoxaemic because a vicious circle of hypoxia and hypoventilation can occur.- - - - - - - - - - ranking = 310.99042579995keywords = hypoxia (Clic here for more details about this article) |
4/18. A case of primary alveolar hypoventilation associated with mild proximal myopathy.A 34-year-old man presented with clinical features of primary alveolar hypoventilation, but was found additionally to have an adult onset myopathy caused by acid maltase deficiency. This was not severe, as judged clinically, and was initially overlooked. His vital capacity and sprint maximal ventilatory volume were only slightly reduced, and the ventilatory response to CO2 was virtually absent. There was, however, a mild impairment in the ability to decrease Pco2 to normal by voluntary hyperventilation. The relation of myopathy and alveolar hypoventilation is discussed, and it is proposed that the primary muscle disease predisposed the patient to the development of the ventilatory abnormality.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
5/18. Idiopathic congenital central hypoventilation syndrome: the next generation.Idiopathic congenital central hypoventilation syndrome (CCHS) is a rare disorder in which affected children have a decreased sensitivity of their respiratory centers to hypercarbia and hypoxia, as well as evidence for generalized autonomic nervous system dysfunction. A genetic origin has long been hypothesized for CCHS. Previous reports of the syndrome among twins, siblings, and half siblings, as well as an established association with hirschsprung disease and neural crest tumors support this genetic hypothesis. Here, we present the first reported offspring born to four women diagnosed with idiopathic CCHS. Their children display a spectrum of abnormalities with one child being diagnosed with CCHS, one child with recurrent apparent life threatening events, one infant born prematurely with severe chronic lung disease and diminished ventilatory responses to carbon dioxide, and one infant who is apparently healthy with no clinical manifestations suggestive of disordered respiratory control to date. Two and potentially three of these patients illustrate transmission of altered respiratory control by CCHS patients into the next generation, furthering the evidence that CCHS is part of a broadly based inherited syndrome of autonomic nervous system dysfunction.- - - - - - - - - - ranking = 310.99042579995keywords = hypoxia (Clic here for more details about this article) |
6/18. Central hypoventilation during quiet sleep in two infants.Expired ventilation (VE), tidal volume (VT), frequency (f), and alveolar PCO2 (PACO2) were examined in six normal infants at 41 to 52 weeks post-conceptional age and in two infants who were apneic at birth. Their response to breathing 5% carbon dioxide in air and to 100% oxygen in quiet sleep were compared to those in rapid eye movement (REM) sleep. VE in normal infants was 259 ml/kg/min in REM and 200.2 ml/kg/min in quiet sleep with the difference being due to decreased carbon dioxide production and to decreased dead space. VE increased 34.4 ml/kg/min/mm Hg of PCO2 elevation with 5% carbon dioxide breathing during REM and was not significantly different during quiet sleep. During oxygen breathing VE fell by 32.7% at 30 seconds before increasing again. In the affected infants, VE and PACO2 during REM at 1 and 4 months were normal. At 1 month, during quiet sleep, each infant became apneic and PACO2 rose 9 and 8 mm Hg/min respectively. At this time mechanical ventilation was begun. At 4 months, during quiet sleep, VE was 0.064 and 0.063 ml/kg/min at PACO2 of 66 mm Hg in each infant. The change was due entirely to a decrease in VT to 2.3 and 2.5 ml/kg. At this time 5% carbon dioxide breathing given during normal ventilation in REM produced an abrupt fall in VT to 2.0 and 2.2 ml/kg with no change in frequency. oxygen breathing during REM at one month had no effect but at 4 months produced apnea requiring mechanical ventilation after one minute. The findings suggest that the ventilatory response to carbon dioxide is (1) important in initiation of extrauterine ventilation and (2) in sustaining ventilation particularly in quiet sleep. It is not necessary in sustaining ventilation awake or in REM sleep and it represents a balance between the stimulatory and depressant effects of carbon dioxide on the central nervous system.- - - - - - - - - - ranking = 54.129535147392keywords = oxygen (Clic here for more details about this article) |
7/18. hypoventilation and hypoxia in reversal of cardiogenic shock in an infant with congenital heart disease.The case is presented of a child in cardiogenic shock in whom oxygen administration exacerbated a systemic to pulmonary shunt that caused a critical deterioration in his cardiovascular status requiring hypoventilation and restoration of baseline hypoxia for reversal.- - - - - - - - - - ranking = 1582.0168965734keywords = hypoxia, oxygen (Clic here for more details about this article) |
8/18. Ventilatory management and weaning in a patient with central hypoventilation caused by a brainstem cavernoma.We describe a patient with a brainstem cavernoma who was dependent on hypoxic respiratory drive initially. After excision of the lesion, the patient developed severe hypoventilation unresponsive to both hypoxia and hypercapnia. weaning from mechanical ventilation could be achieved through central respiratory stimulation by acetazolamide. Problems associated with respiratory management of central hypoventilation due to a brainstem lesion are described.- - - - - - - - - - ranking = 310.99042579995keywords = hypoxia (Clic here for more details about this article) |
9/18. Independent lung ventilation in the management of traumatic bronchopleural fistula.Independent lung ventilation (ILV) is a technique for managing patients with unilateral lung disease or injury who have failed conventional mechanical ventilation. A 20-year-old man sustained severe ballistic injuries to the chest and abdomen. Damage control laparotomy controlled the patient's initial hemorrhage, however, an evolving cavitary pulmonary lesion subsequently developed into a high-volume bronchopleural fistula. Progressive atelectasis of the damaged lung resulted in profound hypoxemia and hypercarbia refractory to conventional mechanical ventilation. Synchronous ILV was initiated using a double-lumen endotracheal tube and two ventilators titrated to optimize the patient's oxygenation and ventilation and minimize ventilator-induced lung injury. Intensive ILV over the next 17 days resulted in recruitment of the atelectatic right lung, resolution of the bronchopleural fistula, and significant improvement in oxygenation and pulmonary compliance. This appears to be the longest reported use of ILV for traumatic lung injury.- - - - - - - - - - ranking = 54.129535147392keywords = oxygen (Clic here for more details about this article) |
10/18. hypoventilation in a dialysis patient with severe metabolic alkalosis: treatment by hemodialysis.A patient with end-stage renal disease (ESRD) developed metabolic alkalosis and alkalemia from protracted vomiting. As a result of the absence of the alkali excretory capacity in this patient with ESRD, the alkaline load accumulated rapidly. Once the amount of acid lost from vomiting exceeded the amount of acid gained from metabolism, alkalemia supervened. The initial arterial blood gas on room air revealed hypercarbia, hypoxia and alkalemia. Her serum bicarbonate was greater than 50 mEq/l. Compensatory hypoventilation occurred. In this report, the extent of compensatory hypoventilation in the setting of metabolic alkalosis in patients treated for ESRD and therapeutic approaches to this problem will be discussed. Treatment was aimed at correcting the primary disorder, namely metabolic alkalosis. Conventional bicarbonate dialysis was shown to be effective in improving acid-base homeostasis in this patient.- - - - - - - - - - ranking = 310.99042579995keywords = hypoxia (Clic here for more details about this article) |
| | Next -> |