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Acta Neurológica Colombiana

Print version ISSN 0120-8748

Abstract

ALARCON, Jairo et al. Congenital central hypoventilation syndrome. Acta Neurol Colomb. [online]. 2013, vol.29, n.3, pp.209-214. ISSN 0120-8748.

Central Hypoventilation Syndrome (SHC), known as Ondine syndrome, usually occurs during the neonatal period, this entity is characterized by alveolar hypoventilation in the absence of cardiopulmonary and neuromuscular diseases. It has been reported in mutations of PHOX2B gene. The primary goal of treatment for the SHC is to ensure good ventilation during wakefulness and sleep. Many of these patients live a full life. We report the case of a five-month-old baby diagnosed with SHC, which had episodes of persistent low oxygen saturations, with good response to medical treatment with methylphenidate.

Keywords : Central Hypoventilation Syndrome; Anoxia; Genes; Hypercapnia (MeSH).

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