Adult Saethre-Chotzen Syndrome: A Unique Abnormal Breathing Pattern

B.K. (Bianca) den Ottelander*, Linda Gaillard, Sumin Yang, R (Robbin) de Goederen, Hansje Bredero-Boelhouwer, Marie Lise van Veelen, Robert Tasker, Koen Joosten, Irene Mathijssen

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

41 Downloads (Pure)


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.

Original languageEnglish
Pages (from-to)e459-e461
JournalThe Journal of craniofacial surgery
Issue number5
Publication statusPublished - Jul 2021

Bibliographical note

Publisher Copyright:
Copyright © 2020 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of Mutaz B. Habal, MD.


Dive into the research topics of 'Adult Saethre-Chotzen Syndrome: A Unique Abnormal Breathing Pattern'. Together they form a unique fingerprint.

Cite this