Department of Paediatrics, Catholic University, Rome, Italy.
Am J Med Genet A. 2010 Mar;152A(3):708-12. doi: 10.1002/ajmg.a.32700.
We describe a 2-year-old baby affected by Smith-Magenis syndrome (SMS), due to 17p11.2 deletion, who presented repeated episodes of hemoglobin desaturation during REM sleep. The boy, aged 14 months, presented a phenotype characterized by psychomotor delay, right posterior plagiocephaly, telecanthus, strabismus, upslanting palpebral fissures, broad hypoplastic nasal bridge, short philtrum, deep ring shaped skin creases around the limbs, proximal syndactyly, bilateral hypoacusia. Polysomnographic (PSG) recording showed episodes of REM-related hypoventilation (hemoglobin desaturations without apneas or hypopneas). Sleep disorders are present in almost all the cases of SMS, but very few reports describe the sleep-related respiratory patterns. The finding of REM hypoventilation in SMS does not allow an unequivocal interpretation. It could reflect a subclinical restrictive respiratory impairment or, alternatively, an impairment of central respiratory control during REM sleep. In SMS children, respiratory abnormalities during sleep, and in particular during REM sleep, may cause sleep disruption, reduction of time spent in REM sleep, and daytime sleepiness. We therefore suggest that some sleep abnormalities described in SMS could be consequent to Sleep Disordered Breathing, and in particular to REM hypoventilation. Sleep studies in SMS should include the recording of respiratory parameters.
我们描述了一例 2 岁婴儿患有 Smith-Magenis 综合征（SMS），由 17p11.2 缺失引起，在 REM 睡眠期间反复出现血红蛋白饱和度降低。这个男孩 14 个月大，表现出精神运动发育迟缓、右后斜头畸形、内眦赘皮、斜视、上睑裂倾斜、鼻桥狭窄、短人中、四肢周围深环形皮肤褶皱、近端并指畸形、双侧听力下降的表型特征。多导睡眠图（PSG）记录显示 REM 相关通气不足的发作（血红蛋白饱和度降低而无呼吸暂停或低通气）。睡眠障碍几乎存在于所有 SMS 病例中，但很少有报道描述与睡眠相关的呼吸模式。在 SMS 中发现 REM 通气不足的解释并不明确。它可能反映了亚临床限制性呼吸障碍，或者 REM 睡眠期间中枢呼吸控制受损。在 SMS 儿童中，睡眠期间特别是 REM 睡眠期间的呼吸异常可能导致睡眠中断、REM 睡眠时间减少和白天嗜睡。因此，我们建议 SMS 中描述的一些睡眠异常可能是睡眠呼吸障碍，特别是 REM 通气不足的结果。SMS 的睡眠研究应包括呼吸参数的记录。
