Congenital central hypoventilation syndrome.
Indian J Pediatr
;
2007 Oct; 74(10): 953-5
Artículo
en Inglés
| IMSEAR
| ID: sea-81375
ABSTRACT
Congenital Central Hypoventilation Syndrome is a rare disorder of autonomic dysfunction where the body "forgets to breathe". The primitive responses to hypoxia and hypercapnia are sluggish to absent. Since, it was first described in 1970, not much has been discovered about its etiology and pathophysiology except its relationship with PHOX2B gene mutations and associations with disorders of neural crest origin like Hirschprung's Disease. Here, we describe such a case where the diagnosis of anything other than CCHS seems unlikely.
Texto completo:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Sistema Nervioso Autónomo
/
Humanos
/
Masculino
/
Recién Nacido
/
Traqueostomía
/
Respiración con Presión Positiva
/
Apnea Central del Sueño
/
Diagnóstico Diferencial
/
Enfermedades en Gemelos
/
Lactante
Tipo de estudio:
Estudio diagnóstico
Idioma:
Inglés
Revista:
Indian J Pediatr
Año:
2007
Tipo del documento:
Artículo
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