RESUMO
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.
Assuntos
Sistema Nervoso Autônomo/fisiopatologia , Diagnóstico Diferencial , Doenças em Gêmeos/congênito , Humanos , Lactente , Recém-Nascido , Doenças do Prematuro/diagnóstico , Masculino , Respiração com Pressão Positiva , Apneia do Sono Tipo Central/congênito , TraqueostomiaRESUMO
Congenital central hypoventilation syndrome is a rare disease characterized by a lack of automatic, but with intact, voluntary control of breathing. Patients with this disease need assisted ventilation mostly during sleep. To the best of our knowledge our patient is the first case reported among Saudi and Arab children. Since these patients need special respiratory care with difficulties in family adaptation, reappraisal is needed of the available therapeutic option in the kingdom, including the availability of adequate support for home ventilation at different regions