Screening Children with a Family History of Central Congenital Hypoventilation Syndrome
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 کامل24-hour BP in children with congenital central hypoventilation syndrome.
OBJECTIVE To study circadian BP patterns in patients with congenital central hypoventilation syndrome (CCHS). DESIGN Case-control study. SETTING Teaching hospital in Paris, France. PATIENTS Eleven patients with CCHS (median age, 13 years; range, 6 to 18 years) and 11 sex- and height-matched control subjects. INTERVENTION None. METHODS Each subject underwent 24-h ambulatory BP monitori...
متن کاملCongenital central hypoventilation syndrome: neurocognitive functioning in school age children.
OBJECTIVE Examine indices of neurocognitive functioning in children with PHOX2B mutation-confirmed neonatal onset congenital central hypoventilation syndrome (CCHS) and relate them to indices of PHOX2B genotype, demographics, and disease severity. METHODS Subjects were 20 patients with PHOX2B mutation-confirmed CCHS diagnosed as neonates who had undergone neurocognitive assessment in the cour...
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ژورنال
عنوان ژورنال: Case Reports in Pediatrics
سال: 2020
ISSN: 2090-6803,2090-6811
DOI: 10.1155/2020/2713606