Sleep Apnea-hypopnea Syndrome Associated with Rett Syndrome. Respiratory pattern in the Awake State and Nocturnal Polysomnographic Study

A 14-year old girl with Rett syndrome was studied. The patient had roncopathy, sleepiness, decreased activity and performance, corrected kyphoscoliosis, obesity, retrognathia, ojival palate and dental malocclusion. Nocturnal polysomnography (PSG) showed a moderate obstructive and apparently central sleep apnea-hypopnea syndrome (SAHS) with associated hypoventilation, corrected by continuous positive airway pressure of 11 cm H2O. Respiratory monitoring in the awake state showed a characteristic pattern of episodes of hyperventilation with hypocapnia followed by central apnea and accompanying desaturations. We conclude that patients with Rett syndrome should be studied using PSG in order to rule out SAHS since multiple predisposing factors are often also present.