Sleep-related breathing disorders associated with the characteristics of underlying congenital rare diseases of Moebius syndrome and Poland syndrome

Abstract

A 24-year-old woman was referred to us with daytime sleepiness. She has two congenital intractable and rare diseases, namely, Moebius syndrome and Poland syndrome. Physiological examinations and a detailed usage analysis under a ventilation device helped to conclude that hypoglossal nerve paralysis and thoracic deformity from her two underlying diseases were associated closely with her final diagnosis of obstructive sleep apnoea and sleep-related hypoventilation due to medical disorders. Bilevel positive pressure ventilation with auto-titrating expiratory positive airway pressure was effective. This is the first report that describes in detail the causal interactions between underlying two intractable and rare diseases and sleep-related breathing disorders.