Jiménez MD, Londoño SAM, Rojas JS, Lopera VJS

Language: Spanish
References: 15
Page: 247-253
PDF size: 139.09 Kb.

ABSTRACT

Idiopathic congenital central hypoventilation syndrome, also known as Ondine´s curse, is a rare disease characterized by congenital absence of the central control of breathing and autonomic nervous system dysfunction. Its incidence is estimated to be one per 200,000 births a year. It is an autosomal dominant disease derived from a heterozygous PHOX2B gene mutation, present in 90 % of patients, but its pathophysiological cause has not been elucidated yet. It has a high mortality rate and a lifelong dependency on a life-support device during sleep. However, it could be expected that a coordinated multidisciplinary care, with close monitoring and support, could help this kind of patients to have a relatively normal life. This is the report of a case diagnosed with this disease in Antioquia, Colombia, a place with significant socio-economic limitations that hinder a complete study of this type of low overall prevalence disease.

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