TREATMENT OF VENTILATORY FAILURE IN THE PRADER-WILLI-SYNDROME

Hypercapnic respiratory failure is a common cause of death in the Prad er-Willi syndrome. Its relationship to sleep-disordered breathing has not been established and there are no reports of its successful treatm ent. We have retrospectively reviewed the records of four patients wit h the syndrome, who developed ventilatory failure, Daytime arterial bl ood gas tensions and overnight oximetry traces before and during treat ment were compared. Each patient had severe sleep-disordered breathing in association with daytime ventilatory failure, The median overnight mean arterial oxygen saturation (Sa,O-2) was 82 % and the median mini mum was only. 41.5%, Initial treatment was with nasal intermittent pos itive pressure ventilation, and in each case the daytime arterial bloo d gas tensions were normalized. The patients were maintained on nasal continuous positive airway pressure at night after discharge. Complian ce has been good, and at last follow-up (after a median of 4.8 yrs) th e daytime arterial gas tensions remained normal, while the median over night mean arterial oxygen saturation was 95.5% and the median minimum was 84.5%. This study of patients with the Prader-Willi syndrome show s that daytime ventilatory failure is associated with sleep-disordered breathing. It can be reversed with nocturnal noninvasive ventilation and maintenance treatment with continuous positive airway pressure is well tolerated, with no deterioration in respiratory parameters.