Zucconi M, Ferini-Strambi L, Erminio C, Pestalozza G, Smirne S
Sleep Disorders Center, State University, Milan, Italy.
Respiration. 1993;60(2):127-32. doi: 10.1159/000196186.
The Rubinstein-Taybi syndrome is characterized by a pattern of malformations including broad thumbs and big toes, microcephaly, facial dysmorphism, small stature, and mental retardation. Obstructive sleep apnea (OSA), has been described in several facial or skeletal malformations, but never in the Rubinstein-Taybi syndrome. We studied a 9-year-old boy, previously diagnosed as having the Rubinstein-Taybi syndrome and affected by severe OSA, as documented by polysomnography. He manifested the habitual and heavy snoring with breathing difficulties at night, and excessive daytime sleepiness. Short neck and obesity were important factors for the severity of the syndrome. Continuous positive airway pressure was not tolerated and weight loss was the only possible treatment, as upper airway surgery was not indicated by cephalometric, otolaryngologic or clinical results.
鲁宾斯坦-泰比综合征的特征是一系列畸形，包括拇指和大脚趾宽阔、小头畸形、面部畸形、身材矮小和智力迟钝。阻塞性睡眠呼吸暂停（OSA）已在几种面部或骨骼畸形中有所描述，但从未在鲁宾斯坦-泰比综合征中出现过。我们研究了一名9岁男孩，他之前被诊断患有鲁宾斯坦-泰比综合征，并受严重阻塞性睡眠呼吸暂停影响，多导睡眠图记录了这一情况。他表现出夜间习惯性重度打鼾并伴有呼吸困难，以及白天过度嗜睡。短颈和肥胖是该综合征严重程度的重要因素。持续气道正压通气无法耐受，减肥是唯一可行的治疗方法，因为头影测量、耳鼻喉科或临床结果均未表明需要进行上气道手术。
