Congenital Central Hypoventilation Syndrome and Hirschsprung's Disease in an Extremely Preterm Infant
نویسندگان
چکیده
منابع مشابه
Congenital central hypoventilation syndrome and Hirschsprung's disease in an extremely preterm infant.
Congenital central hypoventilation syndrome with Hirschsprung's disease, also known as Haddad syndrome, is a rare disorder with a variable phenotypic severity. The underlying cause is thought to be an abnormality of neural crest development and/or migration. Surviving neonates can have generalized autonomic nervous system dysfunction. Recent reports have identified mutations in the PHOX2B gene ...
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Congenital central hypoventilation syndrome (CCHS) is a rare disorder that typically presents in the newborn period and is characterized by alveolar hypoventilation and symptoms of autonomic nervous system dysregulation. We describe an infant with CCHS who developed hyperinsulinism, which is an uncommon association. She was born by semi-elective Caesarean section at 37 weeks of gestation after ...
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...
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Later-onset congenital central hypoventilation syndrome (LO-CCHS) does not present only breathing problems but can be present as episodic multiple organs involvement. Our unique case demonstrated LO-CCHS should be considered in the differential diagnosis of mitochondrial diseases and having nontypical polysomnography result.
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...
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ژورنال
عنوان ژورنال: PEDIATRICS
سال: 2005
ISSN: 0031-4005,1098-4275
DOI: 10.1542/peds.2004-1910