Adult Identified with Congenital Central Hypoventilation Syndrome–Mutation inPHOX2bGene and Late-Onset CHS

2005 ◽  
Vol 171 (1) ◽  
pp. 88-88 ◽  
Author(s):  
Debra E. Weese-Mayer ◽  
Elizabeth M. Berry-Kravis ◽  
Lili Zhou
Keyword(s):  
Late Onset ◽  
Congenital Central Hypoventilation Syndrome ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome

scholarly journals Adolescent Congenital Central Hypoventilation Syndrome: An Easily Overlooked Diagnosis

2021 ◽  
Vol 18 (24) ◽  
pp. 13402
Author(s):  
Marta Ditmer ◽  
Szymon Turkiewicz ◽  
Agata Gabryelska ◽  
Marcin Sochal ◽  
Piotr Białasiewicz
Keyword(s):  
Genetic Disease ◽  
Pediatric Patients ◽  
Late Onset ◽  
Current Knowledge ◽  
Adolescent Female ◽  
Congenital Central Hypoventilation Syndrome ◽  
Respiratory Drive ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome ◽  
Made In

Congenital central hypoventilation syndrome (CCHS), also known as Ondine’s curse, is a rare, potentially fatal genetic disease, manifesting as a lack of respiratory drive. Most diagnoses are made in pediatric patients, however late-onset cases have been rarely reported. Due to the milder symptoms at presentation that might easily go overlooked, these late-onset cases can result in serious health consequences later in life. Here, we present a case report of late-onset CCHS in an adolescent female patient. In this review we summarize the current knowledge about symptoms, as well as clinical management of CCHS, and describe in detail the molecular mechanism responsible for this disorder.

Late-onset congenital central hypoventilation syndrome and a rare PHOX2B gene mutation

2014 ◽  
Vol 19 (1) ◽  
pp. 55-60 ◽  
Author(s):  
Joana Magalhães ◽  
Núria Madureira ◽  
Rita Medeiros ◽  
Paula C. Fernandes ◽  
Myriam Oufadem ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Late Onset ◽  
Congenital Central Hypoventilation Syndrome ◽  
Phox2b Gene ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome

Late-onset, insidious course and invasive treatment of congenital central hypoventilation syndrome in a case with the Phox2B mutation: case report

2011 ◽  
Vol 16 (4) ◽  
pp. 951-955 ◽  
Author(s):  
Lia Rita Azeredo Bittencourt ◽  
Mario Pedrazzoli ◽  
Fabiana Yagihara ◽  
Gabriela Pontes Luz ◽  
Silvério Garbuio ◽  
...  
Keyword(s):  
Case Report ◽  
Late Onset ◽  
Congenital Central Hypoventilation Syndrome ◽  
Invasive Treatment ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome

scholarly journals Adult With PHOX2B Mutation and Late-Onset Congenital Central Hypoventilation Syndrome

2018 ◽  
Vol 14 (12) ◽  
pp. 2079-2081 ◽  
Author(s):  
Ajay S. Kasi ◽  
Sheila S. Kun ◽  
Thomas G. Keens ◽  
Iris A. Perez
Keyword(s):  
Late Onset ◽  
Congenital Central Hypoventilation Syndrome ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome
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