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

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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.

ABBREVIATIONS D = diopters; FOA = fronto-supraorbital advancement; FOHR = frontal occipital horn ratio; ICH = intracranial hypertension; ICP = intracranial pressure; OAE = otoacoustic emission; oAHI = obstructive apnea–hypopnea index; OCT = optical coherence tomography; OE = occipital expansion; OFC = occipital frontal head circumference; OSA = obstructive sleep apnea; TH = tonsillar herniation; TRT = total retinal thickness.
Article Information

Contributor Notes

Correspondence Bianca K. den Ottelander: Dutch Craniofacial Center, Sophia Children’s Hospital–Erasmus University Medical Center, Rotterdam, the Netherlands. b.denottelander@erasmusmc.nl.INCLUDE WHEN CITING Published online July 19, 2019; DOI: 10.3171/2019.5.PEDS1969.Disclosures The authors report no conflict of interest concerning the materials or methods used in this study or the findings specified in this paper.

© AANS, except where prohibited by US copyright law.

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