Extreme intra-familial variability of congenital central hypoventilation syndrome: a case series
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چکیده
منابع مشابه
Extreme intra-familial variability of congenital central hypoventilation syndrome: a case series
INTRODUCTION Congenital central hypoventilation syndrome is an autosomal dominant disorder that classically presents as sudden death in infancy secondary to central hypoventilation. Most cases are caused by polyalanine repeat mutations in the paired-like homeobox 2B gene, PHOX2B. More severe disease is typically associated with nonpolyalanine repeat mutations. We report the case of a family wit...
متن کاملCongenital 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 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 Medical Case Reports
سال: 2013
ISSN: 1752-1947
DOI: 10.1186/1752-1947-7-117