Congenital Central Hypoventilation Syndrome with PHOX2B Mutation in Saudi Arabia : A Single Center Experience
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چکیده
منابع مشابه
Congenital central hypoventilation syndrome with PHOX2B mutation in Saudi Arabia: a- single center experience.
CCHS is a rare condition in which there is no respiratory response to hypoxia or hypercarbia during sleep in the absence of any lung or neuromuscular diseases or identifiable brainstem lesions. CCHS typically presents in the newborn period. Three cases with varying clinical presentations at the Pediatric ICU (PICU) at Prince Sultan Military Medical City (PSMMC) in Riyadh between 2008 and 2013 a...
متن کاملA Case of Congenital Central Hypoventilation Syndrome with PHOX2B Gene Mutation in a Korean Neonate
Congenital central hypoventilation syndrome (CCHS) is a life-threatening disorder with apnea and cyanosis during sleep requiring immediate endotracheal intubation during the first day of life. The PHOX2B gene has been identified as the major gene involved in CCHS. This is the first report of a Korean neonate with CCHS confirmed to have a PHOX2B mutation with expanded alleles containing 20 polya...
متن کاملCongenital 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...
متن کاملCongenital central hypoventilation syndrome: PHOX2B mutations and phenotype.
RATIONALE Congenital central hypoventilation syndrome (CCHS), a unique disorder of respiratory control associated with Hirschsprung disease (HSCR) and tumors of neural crest origin, results from polyalanine repeat expansion mutations in the paired-like homeobox (PHOX)2B gene in more than 90% of cases, and alternative PHOX2B mutations in remaining cases. OBJECTIVES To characterize CCHS-associa...
متن کاملAbnormal auditory pathways in PHOX2B mutation positive congenital central hypoventilation syndrome
BACKGROUND Congenital central hypoventilation syndrome (CCHS) is a rare disease characterized by severe central hypoventilation due to abnormal autonomic control of breathing. The PHOX2B gene, mutations of which define the disease, is expressed in a group of nuclei located in brainstem areas. Pathways controlling breathing and auditory pathways traverse very similar anatomic structures. In the ...
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ژورنال
عنوان ژورنال: International Journal of Health Sciences
سال: 2014
ISSN: 1658-3639
DOI: 10.12816/0023984