Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0037315 (sleep apnea)
 8,000 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A man presenting with sleep apnoea was found to have a haemangioblastoma at the cervico-medullary junction. The associated hydrocephalus and syringomyelia resolved after excision of the tumour. Postoperatively the patient developed transient bilateral glossopharyngeal neuralgia, presumably due to surgical damages to the tractus solitarius. To the best of our knowledge this is the first reported case with transient bilateral glossopharyngeal neuralgia following resection of a haemangioblastoma of the cervico-medullary junction.
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PMID:Bilateral glossopharyngeal neuralgia after excision of a solitary cervico-medullary haemangioblastoma: case report. 156 41

The case of a 40-year-old man with syringobulbo-myelia secondary to an unresectable spinal extramedullary tumor is described. Fifteen years previously, the patient had undergone a laminectomy of T8 through T12 for a "benign" spinal cord tumor at another hospital and had become paraplegic; the tumor (neurinoma) had been neglected for 12 years. Magnetic resonance imaging demonstrated a large thoracolumbar spinal tumor with syringobulbo-myelia. Polysomnography showed central-, peripheral-, and mixed-type sleep apneas. After the failure of an attempted syringoperitoneal shunt, cordectomy at the level of T6 was performed with a good result. The mechanisms of the formation of syringomyelia and sleep apnea secondary to a caudal spinal extramedullary tumor are discussed.
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PMID:Cordectomy for syringobulbo-myelia with sleep apnea secondary to a spinal extramedullary tumor: case report. 292 88

A previously healthy 13-year-old boy without myelodysplasia who had mild scoliosis was seen with complaints of nasal congestion, noisy nighttime breathing, and difficulty sleeping. Flattening of the inspiratory loop on the flow-volume curve was found on pulmonary function testing, suggesting a variable extrathoracic obstruction due to a laryngeal lesion. Bilateral abductor vocal cord paralysis and sleep apnea developed precipitously following general anesthesia. Further workup demonstrated a type-I Chiari malformation with syringomyelia. Brainstem abnormalities such as Chiari malformation with secondary tenth cranial nerve deficits should be considered in previously healthy children and adolescents with signs and symptoms of upper airway obstruction and apnea.
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PMID:Sleep apnea and vocal cord paralysis secondary to type I Chiari malformation. 361 93

The natural history of symptomatic adult Type I Arnold-Chiari malformation (ACM) is variable, and the value of surgery in the management of this disease is difficult to assess. A series of 71 patients in whom a diagnosis of Type I ACM was confirmed at operation is presented, and the progress of the patients following posterior fossa decompression is analyzed. The length of history varied greatly. Pain was the commonest symptom (69% of patients); other symptoms included weakness (56%), numbness (52%), and unsteadiness (40%). The presenting physical signs consisted of a foramen magnum compression syndrome (22%), central cord syndrome (65%), or a cerebellar syndrome (11%). Myelography was performed in 69 patients, and was the most useful investigation. Only 23% of plain radiographs were abnormal. In addition to tonsillar descent, the operative findings included arachnoid adhesions (41%) and syringomyelia (32%). All patients underwent suboccipital craniectomy and C1-3 laminectomy. Respiratory depression was the most frequent postoperative complication (14%), and one patient died from sleep apnea. Early postoperative improvement of both symptoms (82%) and signs (70%) was followed by later relapse in 21% of patients, showing an initial benefit following surgery. None of the patients with a cerebellar syndrome deteriorated, whereas 56% of patients with evidence of foramen magnum compression and 66% of those with a central cord syndrome maintained their initial improvement. The authors conclude that posterior fossa decompression appears to benefit some patients, although a significant proportion might be expected to relapse within 2 to 3 years after operation, depending upon the presenting syndrome.
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PMID:Arnold-Chiari malformation. Review of 71 cases. 684 74

We present a case of obstructive sleep apnoea in association with syringomyelia. We describe the successful treatment of the respiratory obstruction by continuous positive airway pressure and then by surgical means. This rare combination of conditions and the management is reviewed.
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PMID:Obstructive sleep apnoea associated with syringomyelia. 832 99

We report an 11-year-old girl with Chiari type I malformation and syringomyelia, who experienced isolated sleep apnea without other neurologic problems. Monitoring with oximetry and movement of thoracic and abdominal walls indicated mixed-type sleep apnea. Chiari type I malformation should be differentiated from other disorders causing sleep apnea.
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PMID:Isolated sleep apnea due to Chiari type I malformation and syringomyelia. 855 69

We present the case of a young adult with type I Arnold-Chiari malformation (AMC1) and syringomyelia who developed central sleep apnoea and chronic respiratory failure, successfully treated with nocturnal noninvasive positive pressure ventilation ventilation (NIPPV). An extensive syringomyelic cavity (from bulbar to L4 segment) with severe impairment of the IX cranial nerve was documented and remains, although reduced, after the neurosurgical treatment. At baseline evaluation, the patient showed a moderate restrictive ventilatory defect, severe hypercapnic respiratory failure, abnormal control of breathing characterized by the absence of response to hypoxia and hypercapnia, and severe nocturnal central apnoeas. Nocturnal NIPPV was then started in the A/C mode with an improvement in blood gas values. Further evaluations were performed 10 and 18 months later. A progressive significant improvement of lung volumes, both in sitting and supine position, associated with a slight improvement of blood-gas values were observed. Nonetheless, the breathing pattern abnormalities persisted. Polysomnographic evaluation during mechanical ventilation showed a normalization of breathing pattern with arterial oxygen saturation (SaO2) > 90% throughout the night.
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PMID:Chronic respiratory failure in a patient with type I Arnold-Chiari malformation (ACM1) and syringomyelia. 968 98

Sleep apnea syndrome is a recognized manifestation of Arnold-Chiari malformation that almost invariably has been described in association with other neurological findings. We report a 39-year-old man who presented with severe daytime hypersomnolence. A detailed neurological examination was completely normal. Polysomnography revealed moderately severe mixed central and obstructive sleep apnea and hypopnea with persistence of central apnea and hypersomnolence despite nasal continuous positive airway pressure therapy. A history of severe headaches precipitated by sustained laughter prompted the consideration of an Arnold-Chiari malformation (ACM). A type I ACM with no evidence of syringomyelia or hydrocephalus was confirmed by MRI and successfully decompressed by suboccipital craniotomy and upper cervical laminectomies. Post-operatively the patient's headaches and hypersomnolence disappeared and a repeat polysomnography showed marked improvement in the sleep-disordered breathing. Physicians should be aware that severe sleep- disordered breathing may be the initial and sole presenting feature of Arnold-Chiari malformation.
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PMID:Arnold-Chiari malformation presenting as sleep apnea syndrome. 1076 56

Patients with craniocervical disorders (CCD) show a wide variety of symptoms and signs suggesting cerebellar and/or high cervical lesion. The anatomic localization of respiratory centers and their possible injury may explain the presence of respiratory disturbances in these diseases. The aim of this preliminary study was to evaluate the polysomnographic findings in a group of patients with CCD, most of them with Arnold-Chiari malformation type I, since sleep apnea has been referred to in isolated cases in the literature. Eleven patients (seven females and four males) with CCD diagnosed by magnetic resonance imaging referred from the neurosurgery unit were submitted to clinical history, physical examination with sleep questionnaires, and scored on the Epworth Sleepiness Scale. Full night polysomnography was performed in an Oxford SAC system where EEG, electro-oculography, electrocardiography, chin and leg electromyography, chest and abdominal efforts, airflow, and oximetry were recorded continuously. Nine patients presented with Arnold-Chiari type I malformation, of whom six showed associated syringomyelia. The other two had basilar invagination. Ninety percent of these patients complained of sleep problems (snoring, choking, and witnessed apneas) and 72% presented hypersomnolence (ESS >9). The polysomnographic findings showed sleep fragmentation in 81% of the patients and a reduction of rapid eye movement sleep in 63%. The apnea/hypopnea index was above 5 in 72%, with a predominance of central apnea. Patients with craniocervical disorders present a higher probability of displaying sleep respiratory disturbances. Their sleep complaints should be assessed and patients should be submitted to an overnight sleep recording in order to identify sleep apnea.
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PMID:Polysomnographic respiratory findings in patients with Arnold-Chiari type I malformation and basilar invagination, with or without syringomyelia: preliminary report of a series of cases. 1108 40

The Chiari type 1 malformation is common. Unlike the Chiari type 2 and 3 malformations, it may remain latent for a long time, becoming symptomatic only in adulthood. The introduction of MRI has resulted in an increased number of diagnoses of this malformation in pediatric patients. It appears to be related to underdevelopment of the posterior cranial fossa. It must be differentiated from acquired tonsillar herniation, particularly when herniation results from intracranial hypotension; these cases are sometimes reported as acquired Chiari I malformation with spontaneous resolution. Tonsillar ectopia may cause symptoms by its direct effect on any or all of the medulla and the cerebellar and upper spinal cord. The most suggestive of the oculomotor disturbances is oscillopsia with downbeat nystagmus. Dysphonia and dysphagia are common. Potentially serious autonomic disturbances are also frequent: sleep apnea, respiratory failure, syncope and even sudden death. Another risk is syrinx formation, resulting from obstruction of CSF circulation in the cisterna magna. Syringomyelia is detected in 32 to 74% of patients with Chiari I malformation. Treatment is surgical. Posterior fossa decompression is achieved by suboccipital craniectomy combined with laminectomy of the upper cervical segments. Surgical intervention is indicated when the malformation is symptomatic and there is no doubt that it is the cause of the symptoms. When a Chiari I malformation is identified fortuitously on MRI, long-term monitoring is essential. The risk of developing symptoms increases over time. Patients should be advised not to participate in contact sports.
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PMID:[Chiari type 1 malformation and magnetic resonance imaging]. 1632 7


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