Cases reported "Sleep Apnea, Central"

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1/31. A case of motor neurone disease with sleep apnoea syndrome.

    A case of a 63-year-old patient with motor neurone disease (amyotrophic lateral sclerosis) with central sleep apnoea syndrome is being reported. His sleep architecture was fragmented with a high apnea-hypopnea index of 65 per hour and maximum oxygen-desaturation of 78 percent. Total correction of sleep pattern with nasal non-invasive ventilation (BiPAP-ST) was demonstrated.
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2/31. Ondine's curse and Hirschsprung's disease: neurocristopathic syndrome.

    We report a female newborn with Ondine's curse and Hirschsprung's disease--neurocristopathic syndrome. The female infant required endotracheal intubation and mechanical ventilation due to apnea which developed soon after birth. She had abdominal distension with bilious vomiting. A barium enema revealed a caliber change at the rectum and rectal biopsies showed no ganglion cells. colostomy was performed at the age of 17 days. Hypoxemia with hypercapnia was noted during her sleep, and tracheostomy was performed at the age of 55 days. In addition, deafness and pupillary autonomic dysfunction were observed. The definitive surgery for Hirschsprung's disease was performed at the age of 4 months. She is now 2 years old with normal growth but needs ventilator support at home. In this case, we detected no mutation in the RET gene and EDNRB gene.
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3/31. Respiratory control and respiratory sensation in a patient with a ganglioglioma within the dorsocaudal brain stem.

    We encountered a young woman with severe central sleep apnea caused by a medullary glioma located slightly dorsal to and to the right of the midline, a region not generally associated with CO(2) chemosensitivity. The patient had normal spirometric readings, lung volumes, diffusing capacity, maximal inspiratory pressure, and alveolar-arterial oxygen difference. While awake, she displayed marked irregularity in her breathing pattern; her end-tidal CO(2) (FET(CO(2))) ranged from 5.3 to 10.9%. During voluntary hyperpnea, she could quickly reduce her FET(CO(2)) to 4.2%, but her PCO(2) did not change after administration of acetazolamide or progesterone. Like patients with congenital central hypoventilation syndrome (CCHS), our patient had a relatively intact ventilatory response to exercise; her PCO(2) was high at the start of exercise and increased slightly thereafter. In contrast to CCHS patients, however, our patient had an intact hypoxic ventilatory response (DeltaVE/ DeltaSa(O(2)) = -0.37 L/min/Sa(O(2))). In further contrast to CCHS patients, our patient had a very short breathholding time and described a sensation of air hunger as the factor limiting her breathholding ability. Her heart rate and blood pressure responses to the valsalva maneuver were normal.
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4/31. Rapid eye movement sleep in breath holders.

    One-night polysomnography was performed on seven subjects suffering from breath-holding spells, including one whose death was suggested to be a consequence of a breath-holding spell. The fatal case showed no rapid eye movements (REMs) during REM sleep, although he exhibited REMs during wakefulness. The average numbers of both REMs and bursts of REMs in REM sleep in the other six breath holders were significantly lower than those in age-matched controls. The breath holders showed no airway obstruction, desaturation, or sleep fragmentation. Since the rapid ocular activity in REM sleep is generated in the brain stem, we hypothesized that a functional brainstem disturbance is involved in the occurrence of breath-holding spells.
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5/31. Primary pulmonary hypertension with central sleep apnea: sudden death after bilevel positive airway pressure therapy.

    An obese 23-year-old man with sleep-disordered breathing and primary pulmonary hypertension (PPH) had been administered oral beraprost sodium, anticoagulant warfarin, and home oxygen therapy, at another hospital as treatment for the PPH, but he had not experienced any symptomatic improvement. The patient had a body mass index of 32.4kg/m2, and complained of fatigue, shortness of breath on exertion, excessive daytime sleepiness, and snoring. Arterial blood gas analysis showed a PaO2 and a PaCO2 of 70.9 and 31.2mmHg, respectively. A polysomnographic study revealed central sleep apnea with an apnea-hypopnea index (AHI) of 29.7episodes/h. The patient showed improvement of daytime sleepiness after starting nocturnal nasal bilevel positive airway pressure (BiPAP) therapy for the central sleep apnea, but his pulmonary hypertension, measured in the daytime, worsened. The patient died suddenly while walking to the bathroom in the morning 1 month after initiation of BiPAP therapy. It is necessary to consider the possibility of sudden death when nasal BiPAP therapy is given to a PPH patient with central sleep apnea.
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6/31. Peculiar respiratory response observed during sleep-onset REM sleep of an infant with Ondine's curse.

    We treated an infant with congenital central hypoventilation syndrome ("Ondine's curse"). She was cyanotic and given ventilatory support at the first hour after birth. An investigation of sleep state and respiration performed at the age of 3 months led to this diagnosis. hypoventilation persisted in all sleep stages, with the most severely reduced tidal volumes occurring during delta-wave sleep (stages 3 and 4). In addition, severe secondary reduction in tidal volumes occurred in sleep-onset REM sleep. This phenomenon was absent in non sleep-onset REM sleep. At 4 months of age, her respiratory treatment was successfully converted to positive-pressure ventilation via a nasal mask, thus avoiding tracheotomy. This transition to noninvasive ventilatory support dramatically improved her quality of life during wakefulness. This report may be a clue to discuss the function of sleep-onset REM sleep seen in the early stage of life and suggests that nasal mask ventilation is a viable option in selected cases with congenital central hypoventilation syndrome (CCHS).
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7/31. apnea during spinal anesthesia in an unsedated patient with central sleep apnea syndrome.

    We describe a case of apnea during spinal anesthesia in an unsedated patient with central sleep apnea syndrome. When spinal anesthesia is planned for a patient who is suspected of having this syndrome, apnea may be induced, even if no sedative was administered and the level of anesthesia is only moderate.
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8/31. Familial adult onset primary alveolar hypoventilation syndrome.

    A 41-year-old man fell into type II respiratory failure after catching a cold, and became dependent on a respirator. Chest radiography showed no abnormalities and the hyperventilation test showed improved arterial blood gas findings. His sleep study showed marked nocturnal desaturation due to hypopnea and apnea with a decrease of thoracic and abdominal movement during sleep. Therefore, we diagnosed him as primary alveolar hypoventilation syndrome (PAH). Seven years previously, his 2-year elder sister had suffered from similar respiratory failure during her second pregnancy and had been diagnosed as PAH. While myopathy was suspected in both cases, attenuation of muscle strength was slight and it appeared not to be the main cause of alveolar hypoventilation. Since medication was not effective in each case, they underwent non-invasive positive pressure ventilation (NIPPV). While sustained mild hypercapnia remained during the daytime, it improved their respiratory failure. To our knowledge, this is the first study of familial adult onset PAH.
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9/31. sleep disorders caused by brainstem tumor: case report.

    Few studies concerning sleep disorders in brainstem lesions or tumors have been published. We report the case of a girl who was operated on for a brainstem tumor at the age of 4 years. In postsurgery, she had hemiparesis of the left side, swallowing difficulties, and severe apneas requiring a tracheotomy with nocturnal ventilation. The child's health improved progressively. Two sleep recordings were performed at 7 and 9 years without nocturnal ventilation. These recordings showed sleep disorders with a decrease in total sleep time and rapid eye movement (REM) sleep. Several central apneas were observed. The apneas were more frequent during REM sleep in the first recording and were associated with desaturation and microarousals.
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10/31. Characteristics of breathing abnormality in Leigh and its overlap syndromes.

    In this report we describe the respiratory patterns of six patients with Leigh syndrome, including two individual cases with accompanying clinical phenotypes of Alpers disease and mitochondrial encephalopathy with ragged red fibers. In five cases where sleep apnea was monitored, each one showed isolated or post-sigh central apnea, hiccup, apneusis-like breathing and obstructive apnea in various combinations. The remaining patient with Alpers/Leigh overlap syndrome showed an apneusis-like pattern of dyspnea. The sleep structure was examined in three patients.Two patients with brainstem lesions showed a decrease in the deep sleep stages and an absence of REM sleep. Medullary lesions were found in four patients by magnetic resonance imaging or at autopsy and involved predominantly the dorsal respiratory group (DRG) of medullary neurons. The role of DRG lesions in the pathophysiology of respiratory symptoms in Leigh syndrome is discussed.
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