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Muenke syndrome: long-term outcome of a syndrome-specific treatment protocol.
J Neurosurg Pediatr 2019; :1-8JN

Abstract

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.

Authors+Show Affiliations

Departments of1Plastic and Reconstructive Surgery and Hand Surgery, Dutch Craniofacial Center, and.Departments of1Plastic and Reconstructive Surgery and Hand Surgery, Dutch Craniofacial Center, and.2Neurosurgery, Erasmus MC-Sophia Children's Hospital, University Medical Center Rotterdam.Departments of1Plastic and Reconstructive Surgery and Hand Surgery, Dutch Craniofacial Center, and.3Department of Radiology, University Medical Center-Wilhelmina Children's Hospital, Utrecht; and.Departments of4Radiology.5Ophthalmology.5Ophthalmology.6Otorhinolaryngology; and.7Oral and Maxillofacial Surgery, Special Dental Care and Orthodontics; and.7Oral and Maxillofacial Surgery, Special Dental Care and Orthodontics; and.Departments of1Plastic and Reconstructive Surgery and Hand Surgery, Dutch Craniofacial Center, and.8Pediatric Intensive Care Unit, Erasmus MC-Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, the Netherlands.Departments of1Plastic and Reconstructive Surgery and Hand Surgery, Dutch Craniofacial Center, and.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

31323628

Citation

den Ottelander, Bianca K., et al. "Muenke Syndrome: Long-term Outcome of a Syndrome-specific Treatment Protocol." Journal of Neurosurgery. Pediatrics, 2019, pp. 1-8.
den Ottelander BK, de Goederen R, van Veelen MC, et al. Muenke syndrome: long-term outcome of a syndrome-specific treatment protocol. J Neurosurg Pediatr. 2019.
den Ottelander, B. K., de Goederen, R., van Veelen, M. C., van de Beeten, S. D. C., Lequin, M. H., Dremmen, M. H. G., ... Mathijssen, I. M. J. (2019). Muenke syndrome: long-term outcome of a syndrome-specific treatment protocol. Journal of Neurosurgery. Pediatrics, pp. 1-8. doi:10.3171/2019.5.PEDS1969.
den Ottelander BK, et al. Muenke Syndrome: Long-term Outcome of a Syndrome-specific Treatment Protocol. J Neurosurg Pediatr. 2019 Jul 19;1-8. PubMed PMID: 31323628.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Muenke syndrome: long-term outcome of a syndrome-specific treatment protocol. AU - den Ottelander,Bianca K, AU - de Goederen,Robbin, AU - van Veelen,Marie-Lise C, AU - van de Beeten,Stephanie D C, AU - Lequin,Maarten H, AU - Dremmen,Marjolein H G, AU - Loudon,Sjoukje E, AU - Telleman,Marieke A J, AU - de Gier,Henriëtte H W, AU - Wolvius,Eppo B, AU - Tjoa,Stephen T H, AU - Versnel,Sarah L, AU - Joosten,Koen F M, AU - Mathijssen,Irene M J, Y1 - 2019/07/19/ PY - 2019/01/29/received PY - 2019/05/14/accepted PY - 2019/7/20/entrez PY - 2019/7/20/pubmed PY - 2019/7/20/medline KW - D = diopters KW - FOA = fronto-supraorbital advancement KW - FOHR = frontal occipital horn ratio KW - ICH = intracranial hypertension KW - ICP = intracranial pressure KW - Muenke syndrome KW - OAE = otoacoustic emission KW - OCT = optical coherence tomography KW - OE = occipital expansion KW - OFC = occipital frontal head circumference KW - OSA = obstructive sleep apnea KW - TH = tonsillar herniation KW - TRT = total retinal thickness KW - craniofacial KW - craniosynostosis KW - intracranial hypertension KW - oAHI = obstructive apnea–hypopnea index SP - 1 EP - 8 JF - Journal of neurosurgery. Pediatrics JO - J Neurosurg Pediatr N2 - 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. SN - 1933-0715 UR - https://www.unboundmedicine.com/medline/citation/31323628/Muenke_syndrome:_long-term_outcome_of_a_syndrome-specific_treatment_protocol L2 - https://thejns.org/doi/10.3171/2019.5.PEDS1969 DB - PRIME DP - Unbound Medicine ER -