Erasmus MC-Sophia Children's Hospital, University Medical Center Rotterdam, Dutch Craniofacial Center, Department of Plastic and Reconstructive Surgery and Hand Surgery.
Erasmus MC-Sophia Children's Hospital, University Medical Center Rotterdam, Department of Neurosurgery, Rotterdam, the Netherlands.
J Craniofac Surg. 2021;32(5):e459-e461. doi: 10.1097/SCS.0000000000007357.
A 35-year-old male with Saethre-Chotzen syndrome presented with severe complaints. Neuroimaging showed a Chiari-I malformation, mild ventriculomegaly, a syrinx of the wide central canal, and various cerebral vascular anomalies including a large occipital emissary vein on the right. Ultrasound of this vein confirmed blocking of the outflow-track when turning his head to the right, which also provoked the headaches and bruit. Polysomnography revealed severe positional sleep apnea with a mixed breathing pattern, the central components consisted of periodic breathing with, at times, crescendo-decrescendo reminiscent of a Cheyne-Stokes versus Biot breathing pattern, pointing to possible brain stem/pontine problems. Continuous positive airway pressure was initiated, and the patient was instructed to avoid sleeping in the right lateral position. One year later, nearly all his complaints have resolved. A questionnaire was sent to all adult Saethre-Chotzen patients in our craniofacial unit, none reported any of the severe symptoms as described by our index case.
一位 35 岁的男性患有 Saethre-Chotzen 综合征，出现严重症状。神经影像学显示 Chiari-I 畸形、轻度脑室扩大、宽中央管的脊髓空洞症以及各种脑血管异常，包括右侧一个大的枕部导静脉。该静脉的超声检查证实当他向右转头时，静脉流出道受阻，这也引起了头痛和杂音。多导睡眠图显示严重的体位性睡眠呼吸暂停，混合呼吸模式，其中中心成分包括周期性呼吸，有时类似于 Cheyne-Stokes 与 Biot 呼吸模式，提示可能存在脑干/脑桥问题。开始使用持续气道正压通气，并指示患者避免右侧卧位睡眠。一年后，他几乎所有的症状都已缓解。我们向颅面单位的所有成年 Saethre-Chotzen 患者发送了一份问卷，没有任何患者报告出现我们的索引病例所描述的任何严重症状。
