Saethre–Chotzen syndrome: long‐term outcome of a syndrome‐specific management protocol

• Published in: Developmental medicine and child neurology Vol. 63; no. 1; pp. 104 - 110
• Main Authors: Den Ottelander, Bianca K, Van Veelen, Marie‐Lise C, De Goederen, Robbin, Van De Beeten, Stephanie DC, Dremmen, Marjolein HG, Loudon, Sjoukje E, Versnel, Sarah L, Van Den Ouweland, Ans MW, Van Dooren, Marieke F, Joosten, Koen FM, Mathijssen, Irene MJ
• Format: Journal Article
• Language: English
• Published: England John Wiley and Sons Inc 01-01-2021
• Subjects: Acrocephalosyndactylia - complications; Acrocephalosyndactylia - diagnostic imaging; Acrocephalosyndactylia - pathology; Acrocephalosyndactylia - surgery; Adolescent; Adult; Child; Child, Preschool; Clinical Protocols; Computed Tomography Angiography; Female; Frontal Bone - surgery; Humans; Infant; Intracranial Hypertension - etiology; Intracranial Hypertension - prevention & control; Longitudinal Studies; Magnetic Resonance Imaging; Male; Neuroimaging; Neurosurgical Procedures - methods; Orbit - surgery; Original; Outcome Assessment, Health Care; Tomography, Optical Coherence; Young Adult
• ISSN: 0012-1622; 1469-8749
• DOI: 10.1111/dmcn.14670

Aim
To assess the long‐term outcomes of our management protocol for Saethre–Chotzen syndrome, which includes one‐stage fronto‐orbital advancement.
Method
All patients born with Saethre–Chotzen syndrome between January 1992 and March 2017 were included. Evaluated parameters included occipital frontal head circumference (OFC), fundoscopy, neuroimaging (ventricular size, tonsillar position, and the presence of collaterals/an abnormal transverse sinus), polysomnography, and ophthalmological outcomes. The relationship between papilledema and its associated risk factors was evaluated with Fisher’s exact test.
Results
Thirty‐two patients (21 females, 11 males) were included. Median (SD) age at first surgery was 9.6 months (3.1mo) for patients who were primarily referred to our center (range: 3.6–13.0mo), the median (SD) age at last follow‐up was 13 years (5y 7mo; range: 3–25y). Seven patients had papilledema preoperatively, which recurred in two. Two patients had papilledema solely after first surgery. Second cranial vault expansion was indicated in 20%. Thirteen patients had an OFC deflection, indicating restricted skull growth, one patient had ventriculomegaly, and none developed hydrocephalus. Eleven patients had emissary veins, while the transverse sinus was aberrant unilaterally in 13 (hypoplastic n=10 and absent n=3). Four patients had mild tonsillar descent, one of which was a Chiari type I malformation. Four patients had obstructive sleep apnoea (two mild, one moderate, and one severe). An aberrant transverse sinus was associated with papilledema (p=0.01).
Interpretation
Single one‐stage fronto‐orbital advancement was sufficient to prevent intracranial hypertension for 80% of our patients with Saethre–Chotzen syndrome. Follow‐up should focus on OFC deflection and venous anomalies.