[Ondine syndrome: diagnosis and management].
Ondine's syndrome is a congenital central hypoventilation syndrome due to a disorder in the autonomic control of breathing in the absence of any primary disease that would explain it. Although the incidence of this entity is low, it may be underestimated due to the variable clinical expression of this syndrome, depending on its severity. Early diagnosis is of great importance to provide appropriate management to prevent the acute and chronic asphyxia that determines the long-term prognosis of this disease. This review aims to present practical management guidelines to provide doctors unfamiliar with this syndrome with basic knowledge of the diagnosis, treatment and follow-up of these patients.
Costa Orvay
J A
JA
Unidad de Cuidados Intensivos Pediátricos, Servicio de Pediatría, Unidad Integrada, Hospital Sant Joan de Déu-Hospital Clínic, Universitat de Barcelona, España.
Pons Odena
M
M
D002675:Child, Preschool; D003937:Diagnosis, Differential; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D010100:Oxygen / Q000378:metabolism; D011175:Positive-Pressure Respiration / Q000379:methods; D012121:Respiration, Artificial / Q000379:methods; D020182:Sleep Apnea, Central / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D014157:Transcription Factors / Q000235:genetics
D018398:Homeodomain Proteins; C109220:NBPhox protein; D014157:Transcription Factors; D010100:Oxygen