Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020440 (hypercapnia)
 7,939 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Chronic hypertrophied tonsils and adenoids causing partial airway obstruction produced serious illness and a confusing clinical picture in a 51/2-year-old boy. Cardinal signs were cor pulmonale, pulmonary oedema and marked cardio-respiratory changes due to hypoxaemia and hypercapnia, in addition to hypersomnia. Marked improvement of the clinical picture and the abnormal signs followed directly upon tonsillectomy and adenoidectomy. Chronic alveolar hypoventilation is presumably the main cause of the described condition and of others of extracardiac origin with similar signs and symptoms.
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PMID:[Chronic tonsillar hypertrophy as a cause of cor pulmonale, pulmonary oedema, and hypersomnia in children (author's transl)]. 89 99

36 night sleep recordings were carried out on 15 patients suffering from myotonia dystrophica. 9 of these patients complained of diurnal hypersomnia. 10 patients had a disturbance of night sleep with a reduction of REM sleep sometimes associated with interruption of the recording with an increase in the light stages of sleep or alternatively with an increase of REM sleep with a reduction in the latency period of the first paradoxical sleep or with narcoleptic elements. 13 patients had abnormally early abolition of chin EMG activity, almost on falling asleep. 11 cases had pathological apnoeic episodes during sleep and in 9 of the 10 patients who underwent respiratory function studies there was a restrictive airways defect. In addition 9 had frank hypoxia without hypercapnia and 4 a right to left shunt. 3 clinically unaffected patients but with affected relatives were also investigated, 2 were found to have sleep disturbances 1 of which was associated with early abolition of tone.
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PMID:[Disturbances of wakefulness, sleep and respiratory function in Steinert's disease]. 92 30

The CSF pressure was measured continuously at the lumbar level during nocturnal sleep in 3 patients with sleep apnea hypersomnia syndrome. Nocturnal sleep was very unstable with frequent episodes of obstructive sleep apnea. When the patients were awake and relaxed in the supine position, their CSF pressure was stable and within the normal range. Episodic marked elevations of CSF pressure occurred frequently during sleep, and each elevation was preceded and accompanied by an episode of sleep apnea or hypopnea. Significant correlations were found between the duration of apneic episodes and increase of CSF pressure, and between decrease of SaO2 or TcPO2 and increase of CSF pressure. The duration of sleep apnea was longer, increase of CSF pressure was greater, and decreases of SaO2 and TcPO2 were more marked during REM sleep than during NREM sleep. It is suggested that the frequent marked episodic elevations of CSF pressure are caused by an increase in the intracranial vascular volume occurring mainly in response to transient hypercapnia and hypoxia, which are induced by pulmonary hypoventilation during the episodes of sleep apnea.
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PMID:Marked episodic elevation of cerebrospinal fluid pressure during nocturnal sleep in patients with sleep apnea hypersomnia syndrome. 257 29

Snoring usually is trivial and unimportant, but it can turn into a social or medical problem. Obesity, hypertension and heart disease are more frequent among snorers than among nonsnorers, and especially snorers with hypersomnia during the day are at risk. Hypersomnia in association with snoring usually signifies obstructive sleep apnea. Increased resistance in the upper airways, together with negative inspiratory pharyngeal pressure and muscular hypotonia during deep non-REM and REM sleep, lead to collapse of the pharynx, hypoxia and hypercapnia. Only after arousal from sleep does muscle tone return, pharyngeal obstruction reopen and airflow resume. Since this process can occur 300 or 400 times a night, repetitive alveolar hypoventilation leads to pulmonary-arterial hypertension and cor pulmonale, and the repetitive sympathetic activations can cause systemic hypertension or serious cardiac arrhythmias. The countless arousals deprive the sufferer of deep non-REM and REM sleep and their consequence is sleep fragmentation. The symptoms are excessive daytime sleepiness, intellectual deterioration and personality and behavioral changes. Oronasomaxillofacial, endocrine and neuromuscular anomalies and diseases predispose to sleep apnea, and alcohol or CNS-depressant drugs can favour its occurrence. Diagnosis is made by nighttime oxymetry, and if this is abnormal, by polysomnography. After polysomnography it is possible to distinguish between obstructive and nonobstructive sleep apnea, and the decisions for an adequate treatment can be made.
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PMID:[Dangerous snoring. Sleep-apnea syndrome]. 331 92

Hypoventilation in children with hypertrophied tonsils can cause hypoxemia, hypercarbia, acidosis and pulmonary vasoconstriction resulting in cardiac arrhythmias or cor pulmonale. In addition, cerebral symptoms such as day-time hypersomnia or even seizures may be present. Early recognition of hypertrophied tonsils is necessary to avoid development of severe cardiac symptoms. If cardiac incompensation is present, medical treatment is advocated prior to tonsillectomy. Anaesthesia for tonsillectomy in these children is associated with special considerations. Preoperative sedation should be excluded, and inhalational induction with O2 and Halothane is recommended. On induction a difficult intubation should be expected.
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PMID:[Hypertrophic tonsils, upper airway obstruction and cardiac complications. A combined otological, medical and anesthesiological problem]. 825 5

Congenital central hypoventilation syndrome (CCHS) is a rare disorder with uncertain nosology that usually presents early in life. The syndrome is characterized by ventilatory response impairment to carbon dioxide and may result in respiratory failure at birth. Recent reports have identified a similar clinical presentation beyond infancy called late-onset central hypoventilation syndrome (LO-CHS) as a disease continuum of CCHS with similar and overlapping pathophysiology. However, some have proposed that the syndrome accompanied by hypothalamic dysfunction (HD) be classified as a distinct clinical entity, LO-CHS/HD. To the best of our knowledge, the case reported herein is the oldest case of LO-CHS/HD in childhood, at 13 years old. He suffered from recurrent pulmonary edema, acute convulsive seizures, hypersomnia, hyperphagia, obesity, impaired glucose tolerance test, and hypercapnia, diagnosed as LO-CHS/HD, and was successfully treated with nasal bi-level positive airway pressure.
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PMID:A case of late-onset central hypoventilation syndrome with hypothalamic dysfunction: through a new phenotype. 2056 Feb 60

In neuromuscular diseases, respiratory disorder is related to sleep disorder. In Duchenne muscular dystrophy, respiratory muscle disorder progresses and induces alveolar hypoventilation. Hypoxemia and hypercapnia develop, requiring appropriate management. Hypoxemia first appears during sleep, initially occurring during the REM period, and it progresses and becomes persistent. Not only a decrease in the respiratory muscle strength but also upper respiratory tract obstruction due to soft palatal hypertrophy or a decrease in the muscle tension during sleep causes noctural ventilatory impairment. Hypoxemia is severe at dawn, and reduces the quality of life, inducing poor arousal in the morning, headache, and decreased appetite. Sleep fragmentation causes hypersomnia during the day. When ventilation is maintained using a respirator, almost all problems are overcome. In myotonic dystrophy type 1, there are respiratory control and sleep disorders due to central nerve abnormalities in addition to respiratory muscle lesions. Even in the stage of mild respiratory muscle lesions, hypoxemia during sleep sometimes appears. Hypersomnia during the day is also an important symptom. Hypersomnia does not disappear even after the correction of hypoxemia using a respirator.
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PMID:[Neuromuscular disease and sleep disturbance]. 2567 87