15q11-q13. Frequent comorbidities include obesity, sleepdisordered breathing (SDB) and impaired glucose metabolism. Patients with PWS are at high risk for SDB due to obesity, hypotonia and facial dysmorphism including micrognathia and small nasopharynx and/or oropharynx. We report a morbidly obese 11-year-old girl with PWS, SDB and insulin-dependent type 2 diabetes mellitus (T2DM) with dramatic glycemic improvement following improved control of SDB with positive airway pressure (PAP) therapy treatment after a hospitalization for obesity hypoventilation syndrome and cor pulmonale.
Case HistoryThe patient was diagnosed with PWS by genetic testing at 3 months of age. Three years later, she was diagnosed with severe obstructive sleep apnea (OSA) with an apnea-hypopnea index (AHI) of 59 events per hour (normal < 1.5). She subsequently underwent adenotonsillectomy and uvulopalatopharyngoplasty. Four months following surgery, she had a repeat polysomnogram that showed a post-surgical residual AHI of 13 and she was started on PAP therapy. She was diagnosed with T2DM at 6 years of age and was started on basal-bolus insulin therapy and metformin. Due to her severe obesity, T2DM and SDB, she has not been treated with growth hormone. Additionally, while there is some promising research suggesting that bariatric surgery may have a role in weight management for children with PWS [1], bariatric surgery is not available for children at our center. By 8 years of age, she no longer tolerated PAP therapy and was instead initiated on nocturnal supplemental oxygen therapy. Repeat polysomnogram performed on 4 LPM O 2 via nasal cannula at 9 years of age showed persistent OSA (AHI of 7.1) and nocturnal hypoventilation, and PAP Abstract Prader-Willi syndrome (PWS) is a genetic condition frequently associated with extreme obesity, sleep-disordered breathing (SDB) and impaired glucose metabolism. We report an 11-year-old girl with PWS, morbid obesity, SDB and insulin-dependent type 2 diabetes mellitus who had a marked decrease in her hemoglobin A1c following improved control of her SDB. SDB has been shown to impair glucose metabolism though trials of SDB treatment have reported mixed effects on glucose metabolism. This case shows an association between improved control of SDB with optimal positive airway pressure therapy and improved glycemic control in a patient with PWS, extreme obesity and poorly controlled type 2 diabetes mellitus. These findings highlight the need for further investigation into the effects of SDB treatment on glucose regulation in children, particularly in the setting of PWS.