[Ondine syndrome: myth meets reality]
- PMID: 39900069
[Ondine syndrome: myth meets reality]
Abstract
Congenital central alveolar hypoventilation (CCAH), previously called Ondine Syndrome, is a rare disease, with an incidence of 1/200000 births and a prevalence of 1/500000. It is a defect in the central control of ventilation, not explained by muscular, neurological, cardiological, or pulmonary abnormalities. Early diagnosis is important to avoid episodes of hypoxia and hypercapnia, which overshadow the prognosis. The definitive diagnosis is made by determining mutations in the PHOX2B gene on chromosome 4p13. Two members of the same family are presented, mother and daughter with different clinical presentations. CCAH is a diagnostic challenge. Suspected or confirmed cases should be evaluated in reference centers.
La hipoventilación central alveolar congénita (HCAC), antes denominada síndrome de Ondine, es una enfermedad poco frecuente, con una incidencia de 1/200000 nacimientos y una prevalencia 1/500000 personas. Existe un defecto en el control central de la ventilación, no explicado por anormalidades musculares, neurológicas, cardiológicas o pulmonares. Es de importancia un diagnóstico precoz que evite episodios de hipoxia e hipercapnia, lo que empobrece el pronóstico. El diagnóstico definitivo se realiza mediante la determinación de mutaciones en el gen PHOX2B del cromosoma 4p13. Se presentan dos integrantes de una misma familia, madre e hija, con distinta presentación clínica. La HCAC es un reto diagnóstico. Los casos, sospechosos o confirmados, deben ser evaluados en centros de referencia.
Keywords: Ondine syndrome; PHOX2B mutation; congenital central alveolar hypoventilation.
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