1/31. Ondine's curse in association with diabetes insipidus following transient vertebrobasilar ischemia.Ischemic lesions of the brainstem can lead to complex neurologic deficits. Failure of the automatic control of ventilation (Ondine's curse syndrome) is a possible but rare syndrome following localized brainstem dysfunction. We report on a 49-year-old man with intermittent bradycardia, cranial nerves' dysfunctions and a slight right-sided hemiparesis. An acute brainstem ischemia was diagnosed and treated immediately with high-dose heparin. cerebral angiography revealed a proximal occlusion of the left vertebral artery but a normal right vertebral artery and a hyperplastic right posterior inferior cerebellar artery. Cranial Computed tomography and MRI scan demonstrated multiple ischemic lesions in the posterior circulation. During a 4-week treatment course the patient underwent six episodes of acute severe hypoxia and hypercapnia requiring orotracheal intubation twice and manual ventilation by air mask over a few minutes for four times after a tracheostomy had been performed. Twice a short-term episode of hypothalamic diabetes insipidus was observed following hypoventilation. We conclude that both Ondine's curse syndrome and diabetes insipidus were due to transient vertebrobasilar ischemia.- - - - - - - - - - ranking = 1keywords = hypoventilation (Clic here for more details about this article) |
2/31. 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.- - - - - - - - - - ranking = 12.251204458769keywords = hypoventilation syndrome, hypoventilation (Clic here for more details about this article) |
3/31. Alveolar hypoventilation syndrome in brainstem glioma with improvement after surgical resection.A 3-year-old boy presented with brainstem astrocytoma and central alveolar hypoventilation syndrome. Contrast MRI of the brain showed that the tumor involved the cerebellum, with compression of brainstem, and resolved after surgical resection. polysomnography performed before and after total tumor resection showed significant improvement in nocturnal respiratory rate, respiratory disturbance index, and oxygen desaturation. It is apparent that central alveolar hypoventilation syndrome secondary to brainstem tumor may improve after surgical resection for those with favorable anatomic location and histology. Serial polysomnography and MRI scans are useful for diagnosis and in the management plan, and to monitor progress.- - - - - - - - - - ranking = 73.507226752616keywords = hypoventilation syndrome, hypoventilation (Clic here for more details about this article) |
4/31. Neonatal hirschsprung disease, dysautonomia, and central hypoventilation.BACKGROUND: A reported association between congenital central hypoventilation, long-segment intestinal aganglionosis (hirschsprung disease), and autonomic dysfunction, with a high recurrence risk and mortality rate, is associated with abnormal neural crest development (neurocristopathy). CASE: A fetus had increasing polyhydramnios, no stomach bubble, and repeatedly nonreactive fetal heart rate tracings despite normal activity. There were no other fetal anomalies on ultrasound. Postnatally all of the above clinical features were diagnosed, prompting diagnosis of neurocristopathy syndrome. She died at 2 weeks of age. CONCLUSION: Antenatal polyhydramnios, nonreactive nonstress tests, and absent stomach bubble in an active fetus indicated neurocristopathy.- - - - - - - - - - ranking = 5keywords = hypoventilation (Clic here for more details about this article) |
5/31. tonic pupil associated with congenital neuroblastoma, hirschsprung disease, and central hypoventilation syndrome.PURPOSE: To report the association of tonic pupil, congenital neuroblastoma, hirschsprung disease, and central hypoventilation syndrome. methods: case reports. RESULTS: Two infants with central hypoventilation syndrome and hirschsprung disease were evaluated for dilated, nonreactive pupils present since birth. In both cases, pharmacologic testing with dilute pilocarpine confirmed denervation supersensitivity consistent with tonic pupil. The diagnosis of congenital neuroblastoma was subsequently established in both infants. CONCLUSIONS: The close association of these conditions in these two young children supports the concept of a common neural crest abnormality being present. A careful systemic evaluation to rule out congenital neuroblastoma should be performed in any young child who presents with tonic pupil in the setting of central hypoventilation syndrome and hirschsprung disease.- - - - - - - - - - ranking = 85.758431211385keywords = hypoventilation syndrome, hypoventilation (Clic here for more details about this article) |
6/31. Clinical letter: epidural analgesia in a newborn with Hirschsprung's disease, associated with congenital central hypoventilation syndrome.A case is presented of a neonate with Hirschsprung's disease, associated with congenital central hypoventilation syndrome. After an ileostomy (at 2 days) and a stoma revision (at 10 days), postoperative pain management was established by continuous intravenous infusion of morphine, which caused severe postoperative respiratory depression. At 6 weeks a re-exploration and stoma revision was performed using postoperative epidural analgesia with bupivacaine. This caused no respiratory depression. A colectomy under epidural analgesia at 8 months was also uneventful. Respiratory difficulties in children with congenital central hypoventilation syndrome associated with Hirschsprung's disease are discussed in relation to the technique of choice for postoperative pain management.- - - - - - - - - - ranking = 73.507226752616keywords = hypoventilation syndrome, hypoventilation (Clic here for more details about this article) |
7/31. 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).- - - - - - - - - - ranking = 24.502408917539keywords = hypoventilation syndrome, hypoventilation (Clic here for more details about this article) |
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.- - - - - - - - - - ranking = 62.256022293847keywords = hypoventilation syndrome, hypoventilation (Clic here for more details about this article) |
9/31. Congenital central hypoventilation syndrome associated with Hirschsprung's disease and neuroblastoma: case of multiple neurocristopathies.We report on a male infant with the rare combined occurrence of congenital central hypoventilation syndrome (CCHS or Ondine's curse), Hirschsprung's disease (HD), and neuroblastoma. Current therapeutical options leave no doubt that children with isolated forms of CCHS, HD, or neuroblastoma must be treated, but management decisions and the ethical dilemma become more difficult with the presence of multiple neurocristopathies. Our patient was dependent on mechanical ventilation and total parenteral nutrition, when a neuroblastoma was diagnosed at age 5 months. We initiated an attempt at curative chemotherapy. The tumor failed to respond to recommended chemotherapeutic regimens, and the patient died at 11 months of age. We emphasize the importance of screening CCHS patients for associated illnesses such as neuroblastoma and ganglioneuroblastoma at time of diagnosis.- - - - - - - - - - ranking = 61.256022293847keywords = hypoventilation syndrome, hypoventilation (Clic here for more details about this article) |
10/31. Congenital central hypoventilation syndrome: a novel mutation of the RET gene in an isolated case.Recently, a few genetic abnormalities were identified in congenital central hypoventilation syndrome (CCHS or Ondine's curse). CCHS is often associated with other neurocristopathies, especially with Hirschsprung's disease (HSCR). Mutations of the genes involved in the receptor tyrosine kinase RET (REarranged during transfection) (RET)-glial cell line-derived neurotrophic factor (GDNF) and/or endothelin 3 (EDN3)-endothelin receptor-B (EDNRB) signaling pathway have been found in some of HSCR patients. In this study, we analyzed candidates for HSCR, namely the RET, GDNF, EDN3 and EDNRB genes in three isolated CCHS patients to confirm the hypothesis that some CCHS patients have a common genetic abnormality with patients having HSCR or other neurocristopathies. We found a novel R114H mutation of the RET gene in one patient. The R114H mutation is unlikely to be a polymorphism and appears to be associated with CCHS. In addition, we also examined the HOX11L2 (RNX) gene, for which knock-out mice showed CCHS-like syndrome in these isolated CCHS patients and did not detected any mutation. Further cases should be analyzed for more candidates to clarify the pathophysiology of CCHS.- - - - - - - - - - ranking = 61.256022293847keywords = hypoventilation syndrome, hypoventilation (Clic here for more details about this article) |
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