<p>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.</p>

doi.org/10.1097/SCS.0000000000007357, hdl.handle.net/1765/136013
The Journal of craniofacial surgery
Erasmus MC: University Medical Center Rotterdam

B.K. (Bianca) den Ottelander, L. (Linda) Gaillard, S. (Sumin) Yang, R (Robbin) de Goederen, H.H. (Hansje) Bredero - Boelhouwer, M.L.C. van Veelen - Vincent, … I.M.J. (Irene) Mathijssen. (2021). Adult Saethre-Chotzen Syndrome. The Journal of craniofacial surgery, 32(5), e459–e461. doi:10.1097/SCS.0000000000007357