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

Seventeen patients who were suspected of having hydrocephalus, because of ventricular dilation from various causes, were included in this study of the pathophysiologic basis of the appearance of pressure waves (PWs). Pressure waves accompanied by apnoeas originated in arousal responses in the resting state of these patients. Frequent fits of apnoea were included in the entire sleep apnoea syndrome. Most pressure waves characteristically appeared in the state of non-REM sleep. During the appearance of such pressure oscillations, intracranial pressure was elevated transiently. This coincidence in the appearance of pressure oscillations with sleep apnoea was the most characteristic pathophysiologic result from this polygraphic study of the patients.
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PMID:Pressure wave with apnoea evaluated by sleep level in patient with ventricular dilation. 290 23

The authors had studies the correlation between the appearance of the pressure waves and the level of the sleep in pre- and postoperative patients with normal pressure hydrocephalus (NPH). The changes from preoperative findings to postoperative ones were discussed in detail with the relation of the pathophysiological state in these patients. Seventeen patients were evaluated for the suspected diagnosis of the disease of NPH. Thirteen patients of them were treated with ventriculo-peritoneal shunts. Four representative cases among them were evaluated by pre- and postoperative polygraphic studies. A polygraphic overnight study includes a monitoring of an intracranial pressure (ICP), electroencephalography (EEG), electrooculography (EOG), respiratory movement and electromyography (EMG). Each data was recorded for the analysis on data recorder using a computer system. A pressure waves (largely B type) appeared accompanied with an apnea at a resting state (so-called sleep) of each patients. An arousal response in EEG was also observed in the raising period of the pressure waves. At the peak respiration was resumed with transient activities in EMG and continued to the disappearance of the pressure wave. Pressure waves were observed frequently and continually in hours in the resting state of these patients. As a result the level of sleep alternated frequently between an awake stage and a stage 1, including extremely rare appearance of stage 2. In short, the level of sleep was frequently interrupted by the appearance of the pressure waves and apneas. Such pathological states of patient's sleep were involved in the entity of the sleep apnea syndrome.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A biological rhythm in a patient with normal pressure hydrocephalus--comparative studies in pre- and postoperative patients by a polygraphy]. 650 59

A review of 16 pediatric patients examined and treated from 1987 to 1991 is presented. The purpose for this review was to examine the different initial clinical presentation in the younger age group versus the older child and to identify the factors impacting on the patients' surgical outcome, including the patients' age, clinical presentation and MRI findings. Patients' ages ranged from 4 to 14 years. Ten were under 6 years of age. Seven males and 9 females were included. The diagnosis was confirmed by MRI in all patients and all were followed by clinical and MRI evaluations for at least 1 year postoperatively. The patients were grouped into three subgroups: (a) group IA patients with a Chiari I malformation, (b) group IB patients with a Chiari I malformation and syrinx, and (c) group IC patients with a Chiari I malformation and hydrocephalus with or without an associated syringomyelic cavity. A uniform surgical approach was used and tailored to the degree of anomalies seen on MRI. Patients with a Chiari IA and IB were treated by a suboccipital craniectomy, upper cervical laminectomy, arachnoidal retraction and duraplasty. Only 1 patient in group B required a syringosubarachnoid shunt initially. Patients with a Chiari IC malformation were treated by a ventriculoperitoneal shunt initially. The clinical presentation of younger children (less than 6 years old) appeared similar to older children (over 6 years of age) except for sleep apnea, which was limited to the younger age group. Patients with pronounced motor and sensory deficits had the worst prognosis for recovery.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:An approach to symptomatic children (ages 4-14 years) with Chiari type I malformation. 794 7

The central autonomic network (CAN) is an integral component of an internal regulation system through which the brain controls visceromotor, neuroendocrine, pain, and behavioral responses essential for survival. It includes the insular cortex, amygdala, hypothalamus, periaqueductal gray matter, parabrachial complex, nucleus of the tractus solitarius, and ventrolateral medulla. Inputs to the CAN are multiple, including viscerosensory inputs relayed on the nucleus of the tractus solitarius and humoral inputs relayed through the circumventricular organs. The CAN controls preganglionic sympathetic and parasympathetic, neuroendocrine, respiratory, and sphincter motoneurons. The CAN is characterized by reciprocal interconnections, parallel organization, state-dependent activity, and neurochemical complexity. The insular cortex and amygdala mediate high-order autonomic control, and their involvement in seizures or stroke may produce severe cardiac arrhythmias and other autonomic manifestations. The paraventricular and other hypothalamic nuclei contain mixed neuronal populations that control specific subsets of preganglionic sympathetic and parasympathetic neurons. Hypothalamic autonomic disorders commonly produce hypothermia or hyperthermia. Hyperthermia and autonomic hyperactivity occur in patients with head trauma, hydrocephalus, neuroleptic malignant syndrome, and fatal familial insomnia. In the medulla, the nucleus of the tractus solitarius and ventrolateral medulla contain a network of respiratory, cardiovagal, and vasomotor neurons. Medullary autonomic disorders may cause orthostatic hypotension, paroxysmal hypertension, and sleep apnea. Neurologic catastrophes, such as subarachnoid hemorrhage, may produce cardiac arrhythmias, myocardial injury, hypertension, and pulmonary edema. Multiple system atrophy affects preganglionic autonomic, respiratory, and neuroendocrine outputs. The CAN may be critically involved in panic disorders, essential hypertension, obesity, and other medical conditions.
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PMID:The central autonomic network: functional organization, dysfunction, and perspective. 841 66

The cloverleaf skull anomaly represents the most manifestly extreme form of cranio-orbitofaciostenosis with hydrocephalus that has to date been associated with a uniformly poor outcome and frequent death in infancy. Assessment of the primary deformity and the approach to treatment in a consecutive series of 10 patients with the cloverleaf skull anomaly in the one unit are presented. Early predictable surgical correction of the cranio-stenosis is possible by fronto-orbital advancement and lambdoid craniectomy. Less satisfactory correction of hydrocephalus and orbitostenosis is possible with the attendant increased morbidity. Early survival and the potential for a satisfactory long-term outcome depend on the management of the faciostenosis and an airway that may be anomalous at multiple levels. The initial approach was routine tracheostomy, which provided short-term relief but with the morbidity associated with such airway maintenance in any environment other than the most sophisticated health services. More recently, upper airway surgery (uvulopalatopharyngoplasty, adenoidectomy, and soft palatal split) has ensured airway control and avoided the progression to tracheostomy. When utilized later (1 to 10 years), such surgery may alleviate the symptoms of upper airway obstruction and sleep apnea and permit delay of midfacial advancement.
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PMID:The cloverleaf skull anomaly: managing extreme cranio-orbitofaciostenosis. 841 14

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

Hunter disease (mucopolysaccharidosis type II, MPS II) is an X-linked lysosomal storage disease caused by deficiency of iduronate-2-sulfatase. Accumulation of chondroitin sulfate B and heparan sulfate in various tissues is the biochemical consequence of MPS II. Children with Hunter disease are normal at birth, and symptoms occur between 2 and 10 years of age. Typical symptoms include coarse facies with enlarged tongue and prominent forehead as well as a short, stocky built stature with short neck. The cardiovascular, respiratory and gastrointestinal systems may be affected, and oral, dermatological and psychiatric as well as neurological complications are described. Life expectancy is markedly reduced and may be limited to 12 years for severely affected patients. The most common causes of death are airway obstruction and cardiac failure. The most severe symptoms may result from neurological symptoms or complications including hydrocephalus, spinal cord compression, cervical myelopathy, optic nerve compression, and hearing impairment. Patients may also develop carpal tunnel syndrome, sleep apnoea, seizures or mental retardation. This review describes characteristic neurological manifestations in MPS II and its underlying pathophysiology. In addition, an appraisal is given whether or not enzyme replacement therapy may be able to improve in particular the neurological symptoms of Hunter disease.
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PMID:Neurological findings in Hunter disease: pathology and possible therapeutic effects reviewed. 1861 89

Idiopathic intracranial hypertension (IIH) is defined as increased intracranial pressure in the absence of intracranial mass or obstructive hydrocephalus. Over 80% of patients are overweight women. IIH is usually encountered in the neurology and ophthalmology practise as headaches, visual disturbance and papilloedema are the characteristic features of this syndrome. Patients with IIH also experience tinnitus, hearing loss, balance disturbance, cerebrospinal fluid (CSF) otorrhoea or rhinorrhoea and in some cases these otorhinological symptoms can be presenting features of this syndrome. IIH is also associated with obstructive sleep apnoea. Otolaryngologists should be familiar with this important condition as it can manifest a variety of symptoms that are more frequently seen in their clinics. Sometimes otolaryngologists may be involved in the surgical management of this condition, such as repair of CSF rhinorrhoea or otorrhoea or endoscopic optic nerve decompression. The aim of this review article is to familiarise the otolaryngologists with the important features of this unusual syndrome which may remain unrecognised in the otolaryngology practice.
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PMID:Idiopathic intracranial hypertension in otolaryngology. 1935 89

Mucopolysaccharidosis VI (MPS VI) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B leading to the accumulation of dermatan sulfate. Birth prevalence is between 1 in 43,261 and 1 in 1,505,160 live births. The disorder shows a wide spectrum of symptoms from slowly to rapidly progressing forms. The characteristic skeletal dysplasia includes short stature, dysostosis multiplex and degenerative joint disease. Rapidly progressing forms may have onset from birth, elevated urinary glycosaminoglycans (generally >100 microg/mg creatinine), severe dysostosis multiplex, short stature, and death before the 2nd or 3rd decades. A more slowly progressing form has been described as having later onset, mildly elevated glycosaminoglycans (generally <100 microg/mg creatinine), mild dysostosis multiplex, with death in the 4th or 5th decades. Other clinical findings may include cardiac valve disease, reduced pulmonary function, hepatosplenomegaly, sinusitis, otitis media, hearing loss, sleep apnea, corneal clouding, carpal tunnel disease, and inguinal or umbilical hernia. Although intellectual deficit is generally absent in MPS VI, central nervous system findings may include cervical cord compression caused by cervical spinal instability, meningeal thickening and/or bony stenosis, communicating hydrocephalus, optic nerve atrophy and blindness. The disorder is transmitted in an autosomal recessive manner and is caused by mutations in the ARSB gene, located in chromosome 5 (5q13-5q14). Over 130 ARSB mutations have been reported, causing absent or reduced arylsulfatase B (N-acetylgalactosamine 4-sulfatase) activity and interrupted dermatan sulfate and chondroitin sulfate degradation. Diagnosis generally requires evidence of clinical phenotype, arylsulfatase B enzyme activity <10% of the lower limit of normal in cultured fibroblasts or isolated leukocytes, and demonstration of a normal activity of a different sulfatase enzyme (to exclude multiple sulfatase deficiency). The finding of elevated urinary dermatan sulfate with the absence of heparan sulfate is supportive. In addition to multiple sulfatase deficiency, the differential diagnosis should also include other forms of MPS (MPS I, II IVA, VII), sialidosis and mucolipidosis. Before enzyme replacement therapy (ERT) with galsulfase (Naglazyme), clinical management was limited to supportive care and hematopoietic stem cell transplantation. Galsulfase is now widely available and is a specific therapy providing improved endurance with an acceptable safety profile. Prognosis is variable depending on the age of onset, rate of disease progression, age at initiation of ERT and on the quality of the medical care provided.
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PMID:Mucopolysaccharidosis VI. 2038 7


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