Saethre-Chotzen syndrome: long-term outcome of a syndrome-specific management protocol.

Autor: Den Ottelander BK; Department of Plastic and Reconstructive Surgery and Hand Surgery, Dutch Craniofacial Center, Erasmus MC - Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, the Netherlands., Van Veelen MC; Department of Neurosurgery, Erasmus MC - Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, the Netherlands., De Goederen R; Department of Plastic and Reconstructive Surgery and Hand Surgery, Dutch Craniofacial Center, Erasmus MC - Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, the Netherlands., Van De Beeten SD; Department of Plastic and Reconstructive Surgery and Hand Surgery, Dutch Craniofacial Center, Erasmus MC - Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, the Netherlands., Dremmen MH; Department of Radiology, Erasmus MC - Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, the Netherlands., Loudon SE; Department of Ophthalmology, Erasmus MC - Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, the Netherlands., Versnel SL; Department of Plastic and Reconstructive Surgery and Hand Surgery, Dutch Craniofacial Center, Erasmus MC - Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, the Netherlands., Van Den Ouweland AM; Department of Clinical Genetics, Erasmus MC - Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, the Netherlands., Van Dooren MF; Department of Clinical Genetics, Erasmus MC - Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, the Netherlands., Joosten KF; Pediatric Intensive Care Unit, Erasmus MC - Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, the Netherlands., Mathijssen IM; Department of Plastic and Reconstructive Surgery and Hand Surgery, Dutch Craniofacial Center, Erasmus MC - Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, the Netherlands.
Jazyk: angličtina
Zdroj: Developmental medicine and child neurology [Dev Med Child Neurol] 2021 Jan; Vol. 63 (1), pp. 104-110. Date of Electronic Publication: 2020 Sep 09.
DOI: 10.1111/dmcn.14670
Abstrakt: 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.
(© 2020 The Authors. Developmental Medicine & Child Neurology published by John Wiley & Sons Ltd on behalf of Mac Keith Press.)
Databáze: MEDLINE
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