Cases reported "Hypoventilation"

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11/104. 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. ( info)

12/104. tetany following resuscitation after abruptio placentae.

    BACKGROUND: serum ionized calcium and magnesium are normally decreased during later stages of pregnancy. A further rapid decline may be caused by the rapid infusion of blood bank products in which citrate is used as an anticoagulant/preservative. tetany, as reported here, may be precipitated by such infusions.CASE: A gravid woman presented in hemorrhagic shock due to abruptio placentae. Rapid infusion of packed red blood cells and fresh frozen plasma precipitated signs of tetany, muscle rigidity, posturing, high airway pressure during mechanical ventilation, etc. Ionized calcium and magnesium blood levels were very low (0.58 mmol/L and 1.0 mg/dL, respectively), but responded to rapid electrolyte administration.CONCLUSION: Binding of calcium and magnesium by citrate may lead to hypo-ionized calcemic and hypomagnesemic tetany after rapid replacement of blood products in the pregnant patient. This consequence is worsened when extreme alkalemia due to respiratory or metabolic causes is also present. ( info)

13/104. 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. ( info)

14/104. 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. ( info)

15/104. Periodic apnea, exercise hypoventilation, and hypothalamic dysfunction.

    Periodic apnea and exercise hypoventilation were observed in a 14-year-old boy. hyperphagia, obesity, serum hyperosmolality without diabetes insipidus or appropriate thirst, and retardation of growth and sexual development indicated a hypothalamic disorder. Neurologic evaluation was normal except for electroencephalographic changes induced by apnea. Pulmonary function tests, resting arterial blood gases in the wakeful state, and ventilatory response to inhaled CO2 were also normal. Acute hypoxemia and respiratory acidosis occurred with apnea during sleep and with insufficient ventilation during exercise. The central origin of sleep apneas was shown by esophageal pressure monitoring. The hypothalamic dysfunction and exercise hypoventilation distinguish this patient from others with obesity and periodic apnea. ( info)

16/104. 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. ( info)

17/104. Athabascan brainstem dysgenesis syndrome.

    We report a new disorder with diverse neurological problems resulting from abnormal brainstem function. Consistent features of this disorder, which we propose should be called the Atabascan brainstem dysgenesis syndrome, include horizontal gaze palsy, sensorineural deafness, central hypoventilation, and developmental delay. Other features seen in some patients include swallowing dysfunction, vocal cord paralysis, facial paresis, seizures, and cardiac outflow tract anomalies. All affected children described are of Athabascan Indian heritage, with eight children from the Navajo tribe and two patients who are of apache background. The disorder can be distinguished from the Moebius syndrome by the pattern of central nervous system findings, especially the sensorineural deafness, horizontal gaze palsy, and central hypoventilation. Recognition of children with some features of Athabascan brainstem dysgenesis syndrome should prompt investigation for other related abnormalities. Published 2003 Wiley-Liss, Inc. ( info)

18/104. cardiac tamponade complicating postpericardiotomy syndrome.

    We present 2 children who developed postpericardiotomy syndrome (PPS) and the rare complication of cardiac tamponade after cardiac surgery, each requiring life-saving pericardiocentesis in the emergency department (ED). Each child presented with vomiting as a chief complaint, an initial sign that has not been reported previously. As the frequency of orthotopic heart transplants and other cardiac surgeries among children increases, it is likely that ED physicians will encounter PPS and cardiac tamponade with greater frequency, and it is imperative that it be recognized promptly and treated appropriately. We review PPS, cardiac tamponade, and the proper performance of a pericardiocentesis. ( info)

19/104. A case report of an obesity hypoventilation syndrome associated with obstructive sleep apnea due to a carotid body paraganglioma.

    BACKGROUND AND PURPOSE: To the best of our knowledge, the association between an obstructive sleep apnea syndrome (OSAS) due to a neck mass and an obesity hypoventilation syndrome (OHS) has not been reported. patients AND methods: We report the case of a patient with obesity hypoventilation syndrome (OHS) in whom OSAS caused by a carotid body paraganglioma contributed to recurrent bouts of severe alveolar hypoventilation. RESULTS AND CONCLUSIONS: The complete surgical excision of the paraganglioma resulted in the cure of the OSAS and contributed to a clear improvement of the clinical symptoms of OHS. ( info)

20/104. Noninvasive ventilatory strategies in the management of a newborn infant and three children with congenital central hypoventilation syndrome.

    Four children with congenital central hypoventilation syndrome (CCHS) treated with noninvasive techniques of ventilation are presented. Two infants (one in the newborn period) were treated with nasal mask bilevel positive airway pressure (BiPAP), and then both were transitioned to negative pressure chamber ventilation at several years of age because of possible midface hypoplasia. Tracheostomies were not performed. Two older children were transitioned from mechanical ventilation via tracheostomy to nasal mask BiPAP, and then in one case to negative pressure chamber ventilation, and in the other to phrenic nerve pacing. Their tracheostomies were removed. ( info)
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