Congenital Central Hypoventilation Syndrome: A Comprehensive Review and Future Challenges
نویسندگان
چکیده
منابع مشابه
Congenital central hypoventilation syndrome
Congenital central hypoventilation syndrome (CCHS) is a rare disorder of the automatic control of breathing. The literary misnomer "Ondine's curse" has been used in prior literatures and the disease was first described in 1970 by Mellins et al.1 The hallmark of the disease is alveolar hypoventilation with insensitivity to hypoxaemia and hypercapnia, most pronounced during sleep, but the clinica...
متن کاملCongenital central hypoventilation syndrome
3 Nelson D A, Weiner A, Yanoff M, DePeralta J. Retinal lesions in subacute sclerosing panencephalitis. Arch Ophthalmol 1970; 84: 613-21. 4 Andriola M, Karlsberg R 0. Maculopathy in subacute sclerosing panencephalitis. Am J Dis Child 1972; 124: 187-9. 5 Cape C A, Martinez J, Robertson J T, Hamilton R, Jabbour J T. Adult onset of subacute sclerosing panencephalitis. Arch Neurol 1973; 28: 124-7. 6...
متن کاملCongenital Central Hypoventilation Syndrome
Congenital central hypoventilation syndrome (CCHS) is a rare neurocristopathy with disordered respiratory control and autonomic nervous system regulation. CCHS is caused by mutations in the PHOX2B gene, and the PHOX2B genotype/mutation anticipates the CCHS phenotype, including the severity of hypoventilation, risk of sinus pauses, and risk of associated disorders including Hirschsprung disease ...
متن کاملCongenital central hypoventilation syndrome: diagnostic and management challenges
Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder with failure of central control of breathing and of the autonomic nervous system function due to a mutation in the paired-like homeobox 2B (PHOX2B) gene. Affected patients have absent or negligible ventilatory sensitivity to hypercapnia and hypoxemia, and they do not exhibit signs of respiratory distress when challeng...
متن کاملAirway obstruction in congenital central hypoventilation syndrome.
Congenital central hypoventilation syndrome (CCHS) is the failure of the autonomic system to control adequate ventilation while asleep with preserved ventilatory response while awake. We report a case of a patient with CCHS who presented with intrathoracic and extrathoracic airway obstruction after tracheostomy tube decannulation and phrenic nerve pacer placement. Nocturnal polysomnography (NPS...
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ژورنال
عنوان ژورنال: Journal of Respiratory Medicine
سال: 2014
ISSN: 2356-7619,2314-6958
DOI: 10.1155/2014/856149