Muenke syndrome: long-term outcome of a syndrome-specific treatment protocol.

Autor:	den Ottelander BK; Departments of1Plastic and Reconstructive Surgery and Hand Surgery, Dutch Craniofacial Center, and., de Goederen R; Departments of1Plastic and Reconstructive Surgery and Hand Surgery, Dutch Craniofacial Center, and., van Veelen MC; 2Neurosurgery, Erasmus MC-Sophia Children's Hospital, University Medical Center Rotterdam., van de Beeten SDC; Departments of1Plastic and Reconstructive Surgery and Hand Surgery, Dutch Craniofacial Center, and., Lequin MH; 3Department of Radiology, University Medical Center-Wilhelmina Children's Hospital, Utrecht; and., Dremmen MHG; Departments of4Radiology., Loudon SE; 5Ophthalmology., Telleman MAJ; 5Ophthalmology., de Gier HHW; 6Otorhinolaryngology; and., Wolvius EB; 7Oral and Maxillofacial Surgery, Special Dental Care and Orthodontics; and., Tjoa STH; 7Oral and Maxillofacial Surgery, Special Dental Care and Orthodontics; and., Versnel SL; Departments of1Plastic and Reconstructive Surgery and Hand Surgery, Dutch Craniofacial Center, and., Joosten KFM; 8Pediatric Intensive Care Unit, Erasmus MC-Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, the Netherlands., Mathijssen IMJ; Departments of1Plastic and Reconstructive Surgery and Hand Surgery, Dutch Craniofacial Center, and.
Jazyk:	angličtina
Zdroj:	Journal of neurosurgery. Pediatrics [J Neurosurg Pediatr] 2019 Jul 19; Vol. 24 (4), pp. 415-422. Date of Electronic Publication: 2019 Jul 19 (Print Publication: 2019).
DOI:	10.3171/2019.5.PEDS1969
Abstrakt:	Objective: The authors evaluated the long-term outcome of their treatment protocol for Muenke syndrome, which includes a single craniofacial procedure. Methods: This was a prospective observational cohort study of Muenke syndrome patients who underwent surgery for craniosynostosis within the first year of life. Symptoms and determinants of intracranial hypertension were evaluated by longitudinal monitoring of the presence of papilledema (fundoscopy), obstructive sleep apnea (OSA; with polysomnography), cerebellar tonsillar herniation (MRI studies), ventricular size (MRI and CT studies), and skull growth (occipital frontal head circumference [OFC]). Other evaluated factors included hearing, speech, and ophthalmological outcomes. Results: The study included 38 patients; 36 patients underwent fronto-supraorbital advancement. The median age at last follow-up was 13.2 years (range 1.3-24.4 years). Three patients had papilledema, which was related to ophthalmological disorders in 2 patients. Three patients had mild OSA. Three patients had a Chiari I malformation, and tonsillar descent < 5 mm was present in 6 patients. Tonsillar position was unrelated to papilledema, ventricular size, or restricted skull growth. Ten patients had ventriculomegaly, and the OFC growth curve deflected in 3 patients. Twenty-two patients had hearing loss. Refraction anomalies were diagnosed in 14/15 patients measured at ≥ 8 years of age. Conclusions: Patients with Muenke syndrome treated with a single fronto-supraorbital advancement in their first year of life rarely develop signs of intracranial hypertension, in accordance with the very low prevalence of its causative factors (OSA, hydrocephalus, and restricted skull growth). This illustrates that there is no need for a routine second craniofacial procedure. Patient follow-up should focus on visual assessment and speech and hearing outcomes.
Databáze:	MEDLINE
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