1/9. 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 = 1keywords = alveolar (Clic here for more details about this article) |
2/9. 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 = 2keywords = alveolar (Clic here for more details about this article) |
3/9. 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 = 6keywords = alveolar (Clic here for more details about this article) |
4/9. Noninvasive interface for transtracheal mechanical ventilation for patients with severe cervical spine deformity.This article describes a custom-molded patient-to-ventilator interface that permits mechanical ventilation via a tracheostomy site for patients for whom tracheostomy tubes can not be used because of severe cervical deformity. The nocturnal delivery of intermittent positive-pressure ventilation resulted in normalization of oxyhemoglobin saturation and end-tidal CO2 and alleviation of symptoms of alveolar hypoventilation. Thermoplastic patient-ventilator tubing interfaces can be constructed to permit ventilatory assistance for patients with tracheostomies who can not use tracheostomy tubes.- - - - - - - - - - ranking = 1keywords = alveolar (Clic here for more details about this article) |
5/9. anterior spinal artery syndrome complicated by the ondine curse.BACKGROUND: Anterior spinal artery (ASA) syndrome results in motor palsy and dissociated sensory loss below the level of the lesion, accompanied by bladder dysfunction. When the cervical spine is involved, breathing disorders may be observed. OBJECTIVE: To describe the polysomnographic findings in a patient with cervical ASA syndrome complicated by a sleep breathing disorder. SETTING: Unit of neurology at a sleep center.Patient A 30-year-old man had an ischemic lesion that affected the anterior cervical spinal cord (C2-C6) bilaterally because of an ASA thrombosis. He developed ASA syndrome associated with respiratory impairment during sleep. RESULTS: The polysomnographic study during sleep showed a severe sleep disruption caused by continuous central apneas that appeared immediately after falling asleep. Treatment by intermittent positive pressure ventilation normalized the respiratory pattern and sleep architecture. CONCLUSIONS: The sleep breathing pattern was compatible with central alveolar hypoventilation due to automatic breathing control failure caused by a lesion of the reticulospinal pathway, which normally activates ventilatory muscles during sleep. This autonomic sleep breathing impairment resembles that found as a complication in patients who undergo spinothalamic tract cervical cordotomy for intractable pain. This surgical complication is known as the Ondine curse.- - - - - - - - - - ranking = 1keywords = alveolar (Clic here for more details about this article) |
6/9. Haddad syndrome: a case study.Hirschsprung's disease (HD), also known as congenital aganglionic megacolon, is a relatively common cause of congenital obstruction of the colon. Congenital central hypoventilation syndrome (CCHS), also known as Ondine's curse, is a rare condition involving failed autonomic respiration in the absence of cardiorespiratory disease resulting in inadequate alveolar ventilation. Both conditions typically present in the newborn period and belong to a group of disorders referred to as neurocristopathies. HD and CCHS most commonly exist as discrete entities, but the coexistence of them is now called Haddad syndrome. Although few documented cases of Haddad syndrome exist in the literature, the association of CCHS and HD suggests a common etiology involving neural crest development.- - - - - - - - - - ranking = 1keywords = alveolar (Clic here for more details about this article) |
7/9. Primary alveolar hypoventilation syndrome complicated with antiphospholipid syndrome.A 32-year-old woman was transported to our hospital by ambulance because of loss of consciousness and breathing induced by drug intoxication. After general status was recovered, her arterial blood gas analysis under breathing room air revealed hypercapnia and hypoxemia which were caused by hypoventilation. After exclusion of apparent pulmonary, neuromuscular and central nerve diseases, she was diagnosed with primary alveolar hypoventilation syndrome. She had the complication of antiphospholipid syndrome (APS), suggesting the possibility of small lesions of the brainstem due to APS, which were too small to be detected on CT or MRI; these small lesions could cause injuries to the respiratory center.- - - - - - - - - - ranking = 5keywords = alveolar (Clic here for more details about this article) |
8/9. Paraneoplastic coma and acquired central alveolar hypoventilation as a manifestation of brainstem encephalitis in a patient with ANNA-1 antibody and small-cell lung cancer.INTRODUCTION: Paraneoplastic neurological disorders are a well recognized complication of malignancy. methods: A case report to expand the currently described clinical manifestations of type 1 antineuronal antibody (ANNA-1)-associated paraneoplastic encephalomyelitis to include coma. RESULTS: We present an unusual case of fluctuating coma and rapid fulminant progression to acute respiratory failure from central alveolar hypoventilation caused by ANNA-1 paraneoplastic encephalomyelitis associated with small-cell lung carcinoma. Paraneoplastic infiltration of the brainstem and cerebellum, including respiratory and arousal centers, was documented on autopsy. CONCLUSIONS: Paraneoplastic encephalomyelitis should be considered as a possible cause of coma and central alveolar hypoventilation.- - - - - - - - - - ranking = 6keywords = alveolar (Clic here for more details about this article) |
9/9. PHOX2B mutation-confirmed congenital central hypoventilation syndrome: presentation in adulthood.Congenital central hypoventilation syndrome (CCHS) typically presents in the newborn period. A case series of five adults is presented, each heterozygous for a documented polyalanine expansion mutation in the PHOX2B gene and evidence of nocturnal alveolar hypoventilation. All cases had symptoms in childhood, but survived to adulthood without ventilatory support. After identification of physiologic compromise, artificial ventilation was initiated. These adults have the mildest of the CCHS-related PHOX2B polyalanine expansion mutations, coding for only five extra alanines; three of the adults have affected offspring. Report of these cases should lead to a more rapid identification of CCHS presenting in adulthood.- - - - - - - - - - ranking = 1keywords = alveolar (Clic here for more details about this article) |