Congenital central hypoventilation syndrome
نویسنده
چکیده
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 Font R L, Jenis E H, Tuck K D. Measles maculopathy associated with subacute sclerosing panencephalitis. Immunofluorescent and immuno-ultrastructural studies. Arch Pathol 1973; 96: 168-74.
منابع مشابه
Congenital central hypoventilation syndrome with hirschsprung's disease due to PHOX2B gene mutation in a Turkish infant.
The association of congenital central hypoventilation syndrome (also known as Ondine's curse) and Hirschsprung's disease is termed Haddad syndrome, which is an extremely rare disorder. Recent studies have described that the PHOX2B gene mutation was responsible for congenital central hypoventilation syndrome. We report a term newborn male infant with clinical manifestations of recurrent hypovent...
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An 8 month old Caucasian girl, with congenital central alveolar hypoventilation syndrome (Ondine's Curse), was discharged with her home ventilation managed by her parents. Her subsequent neurophysical development assessed at 22 months of age was satisfactory.
متن کاملCongenital central hypoventilation syndrome and Hirschsprung's disease in half sibs.
We report two infants with congenital central hypoventilation syndrome and Hirschsprung's disease who have the same father but different mothers. The genetic implications of these cases are discussed.
متن کاملCongenital central hypoventilation syndrome mimicking mitochondrial disease
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
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 کاملHaddad Syndrome with PHOX2B Gene Mutation in a Korean Infant
Congenital central hypoventilation syndrome with Hirschsprung's disease, also known as Haddad syndrome, is an extremely rare disorder with variable symptoms. Recent studies described that congenital central hypoventilation syndrome had deep relation to the mutation of the PHOX2B gene in its diagnosis and phenotype. We report a newborn male infant with clinical manifestations of recurrent hypove...
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