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Successful diaphragmatic pacing for idiopathic alveolar hypoventilation.

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We describe the case of a 17-year-old woman noted to have idiopathic alveolar hypoventilation, with multiple Intensive Care Unit (ICU) admissions because of acute respiratory failure (ARF) due to respiratory infections. After two years of diaphragmatic pacing arterial blood gases have substantially

Significant phenotype variability of congenital central hypoventilation syndrome in a family with polyalanine expansion mutation of the PHOX2B gene.

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BACKGROUND Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder resulting from mutations in the PHOX2B gene located on chromosome 4p12.3, characterized by hypoventilation secondary to missing responses to both hypercapnia and hypoxia. METHODS Proband. A girl, hospitalised 5

Idiopathic hypoventilation syndrome: importance of preventing nocturnal hypoxemia and hypercapnia.

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This report describes a young woman with unexplained chronic hypoventilation that was greatly exacerbated during sleep. Treatment with nocturnal O2 during a 2-yr period was associated with stable cardiovascular function but severe morning headaches and lethargy, presumably related to nightly bouts

The obesity hypoventilation syndrome can be treated with noninvasive mechanical ventilation.

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OBJECTIVE To assess the effectiveness of nasal noninvasive mechanical ventilation (NIMV) in patients with obesity hypoventilation syndrome (OHS). METHODS Clinical assay that compares two groups of patients with hypercapnic respiratory failure, one group with OHS and the other group with

Central Hypoventilation Syndrome Complicated with Lateral Medullary Infarction after Endovascular Treatment of the Vertebral Artery Dissecting Aneurysm: A Case Report.

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Lateral medullary infarction rarely leads to central hypoventilation syndrome (CHS). CHS is a life-threatening disorder characterized by hypoventilation during sleep. We report the first case of CHS as a complication of lateral medullary infarction after endovascular treatment. A 65-year-old man

Nocturnal hypoventilation in children with nonprogressive neuromuscular disease.

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Eight patients between 4 and 24 years of age with nonprogressive neuromuscular disease sought medical attention because of severe nocturnal hypoventilation. There were two types of findings: subacute with progressive early morning headaches and daytime drowsiness and acute with ventilatory failure

HYPOVENTILATION, CYANOSIS AND POLYCYTHEMIA IN A THIN MAN.

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A lack of respiratory centrogenic drive of undetermined origin is a rare cause of cyanosis. In this condition, voluntary hyperventilation restores arterial oxygen saturation to normal. Secondary changes consist of polycythemia, somnolence, headache and right heart failure. The present report of a

[Nocturnal hypoxia index: a new pulse oxymetry index of nocturnal hypoventilation in neuromuscular disorders].

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Respiratory insufficiency due to progressive muscle wasting is a major cause of death in various neuromuscular disorders. Morning headache and anorexia leading to slowly progressive body weight loss are frequently observed as initial symptoms of insufficient ventilation. From our experience

[The congenital central hypoventilation syndrome (CCHS): a late presentation].

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BACKGROUND The congenital central hypoventilation syndrome (CCHS) or Ondine's curse is a rare autosomal dominant disease, characterized by disorders of the autonomic nervous system, with abnormal ventilatory responses to hypercapnia and hypoxia. PHOX2B has been identified as the major gene causing

[Mechanical ventilation in neuromuscular diseases: do not start too early, but certainly not too late].

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Three patients had chronic respiratory disorders: a 42-year-old man with glycogenosis type II was tired, had headaches, poor pulmonary function values and, according to the arterial blood gas values, hypercapnia; a man aged 24 with Duchenne's muscular dystrophy had variable moderate dyspnoea with

[Neuromuscular disease and sleep disturbance].

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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,

Arterial oxygen saturation for prediction of acute mountain sickness.

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BACKGROUND Acute mountain sickness (AMS) is a usually self-limiting syndrome encompassing headache, nausea and dizziness. AMS is seen in those that go from low to high altitudes too quickly, without allowing sufficient time to acclimatize. At present, susceptibility to AMS cannot be predicted. One

[Late onset Ondine syndrome: literature review on a case report].

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Ondine syndrome is the central congenital hypoventilation syndrome (CCHS) caused by the mutation of the PHOX2B gene. In late onset cases, the symptomatology often appears after an acute event (infection, general anesthesia, drug intake), increasing hypoventilation. We report a case of late onset

Sleep breathing disorders and nocturnal respiratory pattern in patients with glycogenosis type II.

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Patients affected by glycogenosis type II frequently present sleep disordered breathing. The presence of symptoms suggestive of sleep breathing disorders was investigated, by a questionnaire, in 10 patients, affected by adult or juvenile forms of glycogenosis type II. Diurnal respiratory function,

Sleep studies and supportive ventilatory treatment in patients with congenital muscle disorders.

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Eight ambulant children aged 6-13 years, four with congenital myopathy, two with congenital muscular dystrophy and two with the rigid spine syndrome, presented with recurrent chest infections, morning headaches, shallow breathing at night, or respiratory failure. Polysomnography confirmed the

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