1/87. vocal cord paralysis and hypoventilation in a patient with suspected leigh disease.The authors report the case of a 16-month-old male with suspected leigh disease, which was diagnosed on the basis of the clinical manifestations, abnormal lactate stimulation test, proton magnetic resonance spectroscopy, and neuroradiologic findings. Progressive stridor resulting from bilateral vocal cord paralysis and hypoventilation was evident. The authors suggest that for infants or children who exhibit vocal cord paralysis, mitochondrial disorders, such as leigh disease, should be considered.- - - - - - - - - - ranking = 1keywords = hypoventilation (Clic here for more details about this article) |
2/87. Infantile lipid storage myopathy with nocturnal hypoventilation shows abnormal low-affinity muscle carnitine uptake in vitro.An infant with respiratory insufficiency, cardiomyopathy, lipid storage myopathy and low muscle carnitine was diagnosed as having 'Ondine's curse' because of recurrent nocturnal hypoventilation. carnitine uptake was studied in 20-day-old cultured muscle, where two distinct saturable transport components are recognized: the high- and low-affinity-uptake. Experimental evidence suggests that low-affinity-uptake is muscle-specific, operating at physiological carnitine concentration. In the patient's cultured myotubes, the low-affinity-uptake K(m) was 260% of controls (P < 0.01), whereas kinetic parameters of high-affinity uptake were normal. The high K(m) indicates an immature or altered carnitine muscle carrier, which may decrease the physiologic carnitine uptake.- - - - - - - - - - ranking = 1keywords = hypoventilation (Clic here for more details about this article) |
3/87. Late-onset central hypoventilation with hypothalamic dysfunction: a distinct clinical syndrome.Idiopathic central hypoventilation has occasionally been reported in previously well children after infancy. The relationship between this late-onset central hypoventilation syndrome (LO-CHS) and congenital central hypoventilation syndrome (CCHS) has not been established. Both CCHS and LO-CHS have been associated with neural crest tumors, such as ganglioneuroblastoma and ganglioneuroma, and they generally occur in the presence of a histologically normal central nervous system. At least 10 case reports of idiopathic LO-CHS featured evidence of hypothalamic dysfunction (HD), including hyperphagia, hypersomnolence, thermal dysregulation, emotional lability, and endocrinopathies. We report on a case of LO-CHS/HD successfully treated by nasal intermittent positive pressure ventilation (NIPPV). Despite the commonalties with CCHS, we propose that LO-CHS/HD is a distinct clinical syndrome. In addition to the markedly different age at presentation, features of hypothalamic dysfunction are not seen in CCHS. review of the literature was undertaken to further clarify the full spectrum of the disease.- - - - - - - - - - ranking = 1.6375512338778keywords = hypoventilation, hypoventilation syndrome (Clic here for more details about this article) |
4/87. 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 = 1.1187756169389keywords = hypoventilation, hypoventilation syndrome (Clic here for more details about this article) |
5/87. 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 = 0.2keywords = hypoventilation (Clic here for more details about this article) |
6/87. Dysfunction of phrenic pacemakers induced by metallic rescue blankets.Phrenic pacing can restore diaphragmatic contractions in patients with central respiratory paralysis. It relies on radiofrequency transmission of energy from an external unit to implanted receivers through circular coil antennas. The case of a patient is reported in whom severe hypoventilation occurred following the use of a metallic rescue blanket. The phenomenon was confirmed in two subsequent patients and during benchmark tests. Possible mechanisms include reflection and diffusion of high frequency waves by a Faraday-like effect. patients with implanted devices relying on telemetric control or powering, and their care givers, should be warned against the use of metallic rescue sheets.- - - - - - - - - - ranking = 0.2keywords = hypoventilation (Clic here for more details about this article) |
7/87. 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 = 0.4keywords = hypoventilation (Clic here for more details about this article) |
8/87. Japanese family with parkinsonism, depression, weight loss, and central hypoventilation.BACKGROUND: The authors describe the clinical and pathologic characteristics of the Fukuoka 1 family, the first Japanese family recognized to have hereditary parkinsonism associated with depression, weight loss, and central alveolar hypoventilation. methods: The pedigree contains 14 family members spanning four generations, with five affected individuals. All available medical records were collected for affected members, including autopsy results. RESULTS: The inheritance pattern was autosomal dominant. The average age at onset of symptoms was 41 years. All patients had parkinsonism characterized by rigidity, bradykinesia, and resting and postural tremor. Bradykinesia and depression developed in the proband at age 43 years. He responded to levodopa in the initial stage only. A year later, he had weight loss and central hypoventilation leading to respiratory failure. Symptoms developed in his cousin at age 38 years. The proband's father developed a resting tremor and depression at age 43 years. The tremor was initially responsive to levodopa therapy, but the disease was relentlessly progressive, leading to severe bradykinesia, rigidity, weight loss, and respiratory distress. He died of respiratory failure at age 49 years. autopsy showed marked neuronal loss and gliosis in the substantia nigra and locus ceruleus. lewy bodies, neurofibrillary tangles, senile plaques, and other abnormal structures were not seen in the cortical and subcortical regions. CONCLUSIONS: The Fukuoka 1 family shares many clinical and pathologic features with five previously reported kindreds from north america and europe, suggesting that this syndrome has a worldwide distribution and can occur in different ethnic populations.- - - - - - - - - - ranking = 1.2keywords = hypoventilation (Clic here for more details about this article) |
9/87. 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 = 1.2keywords = hypoventilation (Clic here for more details about this article) |
10/87. 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 = 1.5938780846946keywords = hypoventilation, hypoventilation syndrome (Clic here for more details about this article) |
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