Síndrome de hipoventilación alveolar central congénita / Congenital central alveolar hypoventilation syndrome

ResumenIntroducción: 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. 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. Se caracteriza por hipoventilación alveolar que se presenta o empeora durante el sueño. 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. Su tratamiento incluye ventilación mecánica y marcapasos diafragmático. Si la terapéutica no se inicia en forma temprana, el paciente desarrollará insuficiencia respiratoria crónica, hipertensión arterial pulmonar, cor pulmonale y la muerte.Casos 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.Conclusiones: El diagnóstico temprano es importante para el inicio del soporte ventilatorio, y para prevenir el desarrollo de complicaciones y reducir la mortalidad.

AbstractBackground: 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.

A Case of Ondine's Curse with Hirschsprung Disease

Ondine's curse, also called congenital central alveolar hypoventilation, is a rare disorder involving failed automatic control of respiration in the absence of cardiopulmonary disease, resulting in inadequate ventilation with progressive hypercapnia and hypoxia during sleep. Although the exact pathophysiological mechanism remains unknown, it is thought that congenital defects in central chemoreceptor that originates from the neural crest cells may be responsible. This syndrome is often reported in association with Hirschsprung disease, and their co-occurrence suggests a common etiology, involving abnormal distribution and/or migration of neutral crest cells. We report a case of Ondine's curse with Hirschsprung disease in a 1-day-old neonate required endotracheal intubation and assisted ventilation.

Anesthetic Experience of a Patient with Chronic Hypoventilation Syndrome: A case report / 대한마취과학회지

Alveolar hypoventilation exists by definition when arterial PaCO2 increases above the normal range of 37 to 42 mmHg, but in clinically important hypoventilation syndromes PaCO2 is generally in the range of 50 to 80 mmHg. The management of chronic hypoventilation must be individualized to the patient's particular disorder, circumstances and need. This is a case report of anesthetic management of a 63-year-old woman with central alveolar hypoventilation (CAH) secondary to cerebral infarction. For hip surgery epidural anesthesia with 0.5% bupivacaine was performed and doxapram was applied to maintain respiratory drive. The anesthetic experience with a brief review of literature is reported.