Neurodevelopmental outcome and respiratory management of congenital central hypoventilation syndrome: a retrospective study
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 کاملRespiratory and autonomic dysfunction in congenital central hypoventilation syndrome.
The developmental lineage of the PHOX2B-expressing neurons in the retrotrapezoid nucleus (RTN) has been extensively studied. These cells are thought to function as central respiratory chemoreceptors, i.e., the mechanism by which brain Pco2 regulates breathing. The molecular and cellular basis of central respiratory chemoreception is based on the detection of CO2 via intrinsic proton receptors (...
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...
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ژورنال
عنوان ژورنال: BMC Pediatrics
سال: 2020
ISSN: 1471-2431
DOI: 10.1186/s12887-020-02239-x