Melnick-Needles syndrome with obstructive sleep apnea successfully treated with nasal continuous positive airway pressure ventilation

Abstract

Melnick-Needles syndrome is a rare disorder characterized by short stature, prominent forehead, bilateral exophthalmos, fullness of the cheeks and retrognathia. We report a 31-year-old female with Melnick-Needles syndrome complicated with severe obstructive sleep apnea syndrome (OSAS). Polysomnography demonstrated a respiratory disturbance index of 76.8/hour. Severe restrictive ventilatory impairment was also evident on pulmonary function tests. Surgical correction of the upper airway failed to improve OSAS symptoms, but nasal continuous positive airway pressure (CPAP) ventilation successfully improved both OSAS and restrictive ventilatory impairment. OSAS should be excluded in patients with Melnick-Needles syndrome and, if diagnosed, nasal CPAP may be a helpful treatment.