Open AccessAdult Saethre-Chotzen Syndrome: A Unique Abnormal Breathing Pattern
Author(s) -
B. den Ottelander,
Linda Gaillard,
Sumin Yang,
Robbin de Goederen,
Hansje Bredero-Boelhouwer,
Marie-Lise van Veelen,
Robert C. Tasker,
Koen Joosten,
Irene M J Mathijssen
Publication year - 2021
Publication title -
the journal of craniofacial surgery/the journal of craniofacial surgery
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 0.515
H-Index - 73
eISSN - 1536-3732
pISSN - 1049-2275
DOI - 10.1097/scs.0000000000007357
Subject(s) - medicine , breathing , polysomnography , headaches , reversible cerebral vasoconstriction syndrome , neurological examination , anesthesia , surgery , apnea , subarachnoid hemorrhage
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.