Obesity hypoventilation syndrome (OHS) is defined by the triad of obesity, daytime hypoventilation, and sleep-disordered breathing without an alternative neuromuscular, mechanical, or metabolic cause of hypoventilation. It is a disease entity distinct from simple obesity and obstructive sleep apnea. OHS is often undiagnosed but its prevalence is estimated to be 10-20% in obese patients with obs...

In this issue of Clinical Science, Trang and co-workers report the results of short-term blood pressure and heart rate variability measurements in patients with congenital central hypoventilation syndrome (CCHS). The results reveal that these young patients disclose signs of vagal withdrawal and baroreflex failure. Baroreflex sensitivity was reduced by one third compared with the matched contro...

OBJECTIVE Examine indices of neurocognitive functioning in children with PHOX2B mutation-confirmed neonatal onset congenital central hypoventilation syndrome (CCHS) and relate them to indices of PHOX2B genotype, demographics, and disease severity. METHODS Subjects were 20 patients with PHOX2B mutation-confirmed CCHS diagnosed as neonates who had undergone neurocognitive assessment in the cour...

BACKGROUND Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation syndrome is a rare pediatric disorder with a variable sequence of clinical presentations, undefined etiology, and high risk of mortality. Our patient presented an unusual course of the disease accompanied by a homogenous mild enlargement of her pituitary gland with an intact pituitary-endo...