A very rare syndrome of rapid-onset obesity with hypoventilation, hypothalamic dysfunction and autonomic dysregulation (ROHHAD) has been recently described as causing morbidity due to hypothalamic dysfunction and respiratory arrest. Its prognosis is poor and often cardiac arrest occurs due to alveolar hypoventilation. This disorder can mimic genetic obesity syndromes and several endocrine disor...

Congenital central hypoventilation syndrome (CCHS) is a rare neurocristopathy with disordered respiratory control and autonomic nervous system regulation. CCHS is caused by mutations in the PHOX2B gene, and the PHOX2B genotype/mutation anticipates the CCHS phenotype, including the severity of hypoventilation, risk of sinus pauses, and risk of associated disorders including Hirschsprung disease ...

A 29-year-old man with a history of resected bulbar hemangioblastoma was admitted to hospital with nighttime breathing disturbance, but with apparently normal breathing while awake. After diagnostic work-up, including polysomnographic testing, he was diagnosed as having central alveolar hypoventilation syndrome due to surgical resection for bulbar hemangioblastoma. Non-invasive positive pressur...

ROHHAD syndrome (Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation) is characterized by rapid-onset obesity in young children, hypoventilation, and hypothalamic and autonomic dysfunction. The exact aetiology of the disease remains unknown, and the number of reported cases seems to be underestimated. We present the case of a nine-year-old male patien...

Obstructive sleep apnea (OSA) may occur in association with obesity-hypoventilation (Pickwickian) syndrome, a disorder of ventilatory control affecting individuals with morbid obesity. Through the pressor effects of chronic hypercapnia and hypoxemia, this syndrome may result in pulmonary hypertension, right heart failure, and massive peripheral edema. We present a case of severe scrotal edema i...

SYNOPSIS A case of myotonic dystrophy accompanied by alveolar hypoventilation and hypersomnia is presented. Radiological studies and EMG examination of the intercostal muscles demonstrated that the respiratory muscles were affected by the disease, while polygraphic recordings showed that the alveolar hypoventilation and pulmonary hypertension worsened during sleep. The hypersomnia preceded the ...

the treatment of obesity hypoventilation syndrome without severe nocturnal desaturation. Thorax 2008;63:395–401. 80. Storre JH, Seuthe B, Fiechter R, et al. Average volume-assured pressure support in obesity hypoventilation: a randomized crossover trial. Chest 2006;130:815–21. 81. Mokhlesi B. Positive airway pressure titration in obesity hypoventilation syndrome: continuous positive airway pres...

PURPOSE To document and explain the beneficial effects of non-invasive ventilation in correcting hypoxemia and hypoventilation in severe chronic obstructive pulmonary disease, during spinal anesthesia in the lithotomy position. CLINICAL FEATURES A morbidly obese patient with severe chronic obstructive pulmonary disease underwent prostate surgery in the lithotomy position under spinal anesthes...

A case of myotonic dystrophy accompanied by alveolar hypoventilation and hypersomnia is presented. Radiological studies and EMG examination of the intercostal muscles demonstrated that the respiratory muscles were affected by the disease, while polygraphic recordings showed that the alveolar hypoventilation and pulmonary hypertension worsened during sleep. The hypersomnia preceded the appearanc...