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1247 Rare hypoventilation syndrome identified in obese adolescent


 
 
 With the obesity epidemic persisting in the United States today, it is no surprise that morbidly obese patients with poor sleep are often linked to the diagnoses of obstructive sleep apnea and/or obesity hypoventilation syndrome before testing is even completed. It is important to spread awareness among pediatric sleep providers of the rare hypoventilation syndromes for which most physicians likely have never seen a case. Missed diagnoses may lead to not only increased morbidity and mortality in patients, but under-reporting of cases will further delay crucial research needed to identify the precise pathophysiology that is currently unknown.
 
 
 
 Authors encountered a 16 year-old male who had re-presented to pediatric sleep clinic after a two-year period of being lost to follow-up. The patient’s past medical history included Angelman’s syndrome, idiopathic central adrenal insufficiency, autonomic instability, seizure disorder, aggressive conduct disorder, morbid obesity, and hypoventilation without discrete obstructive sleep apnea as diagnosed on sleep study at age 10. Central hypoventilation was designated as idiopathic. The family had now returned to care due to concern for worsening episodes of bradypnea, bradycardia, and cyanosis requiring aggressive tactile stimulation. Review of records over the interim revealed multiple ER visits for stress dose steroids, as well as hospitalizations for hypothermia, bradycardia, and seizures. Consideration was taken that his multiple diagnoses were consistent with the unified diagnosis of Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD), and his hypoventilation thus could be accurately characterized as a syndrome of central hypoventilation rather than idiopathic or related to obesity. In addition, his progressive aggression and severe developmental delay could more accurately be attributed to chronic intermittent hypoxia, thus prompting more urgent need for non-invasive ventilation.
 
 
 
 With approximately 100 reported cases, ROHHAD is a rare, clinically distinct entity from other etiologies of hypoventilation. Improved awareness of the diagnosis would hopefully lead to earlier diagnosis and improved anticipatory guidance able to be provided to the family.
