What is Ondine ’ s Curse?

Discussion Congenital central hypoventilation syndrome (CCHS) is an autosomal dominant with variable inheritance genetic disease caused by mutation in the Paired Like Homeobox B2 (PHOX2B) gene on chromosome 4. There are two other genes which may also cause CCHS. CCHS affects the chemoreceptor afferent ventilation pathways and is a neural crest migration problem of the autonomic nervous system. The incidence is unknown but a prevalence of 1 in 200,000 live births has been reported. Obviously it is a rarer phenomenon because of the general lethality of the syndrome. Patients usually present at birth or soon afterwards, but older children and adolescents have been diagnosed. They can have apnea and cyanosis often right after birth. Frank respiratory arrest can occur also. Patients usually have a normal physical examination and often will not show tachypnea or nasal flaring even during times of abnormal gas exchange such as illnesses. Other presentations may include failure to wean from a ventilator, delayed anesthesia recovery, and near drowning. CCHS should be considered when there is “…evidence of hypoventilation without underlying cardiopulmonary, metabolic, neuromuscular or brainstem dysfunction….Signs of cor pulmonale or failure to thrive may be seen and are indicative of the chronicity and severity of the disease.” Patients may or may not have adequate ventilation while awake, but have alveolar hypoventilation (decreased rate and/or tidal volume) wh...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news