[Congenital central alveolar hypoventilation syndrome]

Abstract

Background: Congenital central alveolar hypoventilation syndrome (CCAHS) is a rare sleep-related breathing disorder. Although increasingly frequently diagnosed in sleep clinics and pediatric pulmonology services, its epidemiology is not known. There are about 300 reported cases reported in the literature with an incidence of 1 case per 200,000 live births. CCAHS is characterized by alveolar hypoventilation that occurs or worsens during sleep and is secondary to a reduction/absence of the ventilatory response to hypercapnia and/or hypoxemia. In 90% of the cases it is due to a PARM-type mutation of the PHOX2B gene. Treatment includes mechanical ventilation and diaphragmatic pacemaker. If therapy is not initiated promptly the patient can evolve to chronic respiratory failure, pulmonary hypertension, cor pulmonale and death.

Case reports: In this paper we present three cases of CCAHS diagnosed, treated and followed up at the Sleep Disorders Clinic of the National Institute of Respiratory Diseases in Mexico.

Conclusions: Early diagnosis is important to initiate ventilatory support so as to prevent any complications and to reduce mortality.

Keywords: Congenital central alveolar hypoventilation syndrome; Gen PHOX2B; PHOX2B gene; Pediatric sleep-related breathing disorder; Síndrome de hipoventilación alveolar central congénita; Trastorno pediátrico del sueño relacionado con la respiración.