Maximum level of EtCO 2 (red frame) showing severe hypercapnia during sleep. The patient is in stage 1 of non-rapid eye movement sleep. A genetic analysis was not performed.įigure 1. Treatment was initiated with noninvasive positive pressure ventilation (NIPPV) and was maintained for 9 months, but the NIPPV was stopped and the patient died 6 months later due to acute respiratory failure and cor pulmonale. The remaining laboratory studies were without changes. Electrocardiogram found a right ventricular overload, echocardiogram with enlarged cavities and pulmonary systolic pressure 34 mmHg. Polysomnography (PSG) found a maximum EtCO 2 of 82 mmHg (Figure 1) respiratory function tests and chest x-rays did not show any changes. Severe chronic respiratory insufficiency was documented by oximetry of 57%, exhaled carbon dioxide (EtCO 2) of 47 mmHg (Table 1), blood gases with pH 7.4, PaCO 2 45.4 mmHg, PaO 2 44.1 mmHg, HCO 3 27.8 mmol/l, SaO 2 79.9%. He did not manifest symptoms of autonomic dysfunction his sleep was described as normal, without snoring or apneas. We present the case of a 12-year-old male patient weighing 20.6 kg and measuring 125 cm in height who was hospitalized for community-acquired pneumonia and subsequently sent to this service for chronic hypercapnia and cor pulmonale. We present three cases of children with CCHS treated in the Sleep Respiratory Disorders Clinic of the National Institute of Respiratory Diseases (INER) of México. The exact epidemiology is unknown, but in the international literature there are almost 300 reported cases and an incidence of 1/200,000 live newborns have been reported in France 2. The disease spectrum varies and although the majority of cases are diagnosed neonatally, cases of late onset have been described. By definition, it should not be a specific consequence of central nervous system, metabolic, pulmonary, cardiac disease or other lesions that explain the hypercapnia 1. This hypoventilation is secondary to the decrease or lack of ventilatory response to hypercapnia or hypoxemia. If therapy is not initiated promptly, the patient can evolve to chronic respiratory failure, pulmonary hypertension, cor pulmonale and death.Ĭase reports: In this paper we present three cases of CCHS diagnosed, treated and followed-up at the Sleep Disorders Clinic of the National Institute of Respiratory Diseases in Mexico.Ĭonclusions: Early diagnosis is important to initiate ventilatory support so as to prevent any complications and to reduce mortality.Ĭongenital central hypoventilation syndrome (CCHS) is a rare condition characterized by alveolar hypoventilation that presents itself or worsens during sleep. Treatment includes mechanical ventilation and diaphragmatic pacemaker. In 90% of the cases it is due to a PARM-type mutation of the PHOX2B gene. CCHS 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. There are about 300 reported cases in the literature with an incidence of 1 case/200,000 live births. Although increasingly frequently diagnosed in sleep clinics and pediatric pulmonology services, its epidemiology is not known. Si la terapéutica no se inicia en forma temprana, el paciente desarrollará insuficiencia respiratoria crónica, hipertensión arterial pulmonar, cor pulmonale y la muerte.Ĭasos clínicos: Se presentan tres casos de SHACC diagnosticados, tratados y en seguimiento en la Clínica de Trastornos Respiratorios del Dormir del Instituto Nacional de Enfermedades Respiratorias.Ĭonclusiones: El diagnóstico temprano es importante para el inicio del soporte ventilatorio, y para prevenir el desarrollo de complicaciones y reducir la mortalidad.īackground: Congenital central hypoventilation syndrome (CCHS) is a rare sleep-related breathing disorder. Su tratamiento incluye ventilación mecánica y marcapasos diafragmático. Es secundario a la disminución/ausencia de la respuesta ventilatoria a la hipercapnia o hipoxemia, y en el 90% de los casos es debido a una mutación tipo PARM del gen PHOX2B. Se caracteriza por hipoventilación alveolar que se presenta o empeora durante el sueño. Si bien se desconoce su epidemiología, en la literatura médica existen cerca de 300 casos reportados, y su incidencia es de 1 caso por cada 200,000 recién nacidos vivos. Introducción: El síndrome de hipoventilación alveolar central congénita (SHACC) es un raro trastorno respiratorio del dormir, aunque cada vez más frecuentemente diagnosticado en clínicas de sueño y servicios de neumología pediátrica.
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