Familial Adult Onset Primary Alveolar Hypoventilation Syndrome.
نویسندگان
چکیده
منابع مشابه
Rigid spine syndrome and nocturnal alveolar hypoventilation.
A 17-year-old Japanese woman with rigid spine syndrome (RSS) presented with respiratory failure leading to CO2 narcosis. The clinical symptoms were drowsiness, asterixis and cardiac arrhythmias. Tracheostomy and temporary ventilatory support abolished these symptoms. However, polygraphic sleep studies without a ventilator revealed Cheyne-Stokes respiration and profound arterial oxygen desaturat...
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BACKGROUND The purpose of this study was to describe the sleep structure (especially slow wave sleep) in adults with congenital central hypoventilation syndrome (CCHS), a rare genetic disease due to mutations in the PHOX2B gene. Fourteen patients aged 23 (19.0; 24.8) years old (median [1rst-3rd quartiles]) with CCHS underwent a sleep interview and night-time attended polysomnography with their ...
متن کاملPrimary alveolar hypoventilation in a thin young woman.
To the Editor: Alveolar hypoventilation in association with obesity was described first by Burwell' in 1956. In later years, many cases of this syndrome have been reported. A similar syndrome in nonobese subjects was recognized in 1965.2 By 1970, 30 cases, most of whom were men, had been reported." We wish to report a case of idiopathic hypoventilation in a young, thin woman. We shall point out...
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Two children aged 1 and 20 months developed alveolar hypoventilation syndrome. They suffered severe apnoeic episodes and periodically required assisted ventilation. Their ventilatory response to carbon dioxide was lower than that of normal children and the transcutaneous oxygen tension during sleep was well below the normal range. Treatment with medroxyprogesterone acetate resulted in an improv...
متن کاملLate-onset central hypoventilation syndrome: a family genetic study.
Congenital central hypoventilation syndrome is a rare disorder characterised by chronic alveolar hypoventilation, which becomes more pronounced during sleep and may be associated with neurocristopathies, such as Hirchsprung's disease. A mutation in the PHOX2B gene has recently been identified. In a family of both parents and five offspring, detailed clinical assessment, pulmonary function testi...
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ژورنال
عنوان ژورنال: Internal Medicine
سال: 2001
ISSN: 0918-2918,1349-7235
DOI: 10.2169/internalmedicine.40.526