OBJECTIVEThe authors evaluated the long-term outcome of their treatment protocol for Muenke syndrome, which includes a single craniofacial procedure.METHODSThis 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.RESULTSThe 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.CONCLUSIONSPatients 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.

OBJECTIVEUnicoronal synostosis results in frontal plagiocephaly and is preferably treated before the patient is 1 year of age to prevent intracranial hypertension (ICH). However, data on the prevalence of ICH in these patients is currently lacking. This study aimed to establish the prevalence of preoperative and postoperative signs of ICH in a large cohort of patients with unicoronal synostosis and to test whether there is a correlation between papilledema and occipitofrontal head circumference (OFC) curve stagnation in unicoronal synostosis.METHODSThe authors included all patients with unicoronal synostosis treated before 2 years of age at a single center between 2003 and 2013. The presence of ICH was evaluated by routine fundoscopy. The OFC growth curve was analyzed for deflection and in relationship to signs of ICH.RESULTSIn total, 104 patients were included in this study, 84 (81%) of whom were considered to have nonsyndromic unicoronal synostosis. Preoperatively, none of the patients had papilledema as determined by fundoscopy (mean age at surgery 11 months). Postoperatively, 5% of patients with syndromic synostosis and 3% of those with nonsyndromic synostosis had papilledema, and this was confirmed by optical coherence tomography. Raised intracranial pressure was confirmed in 1 patient with syndromic unicoronal synostosis. Six of 78 patients had OFC stagnation, which was not significantly correlated to papilledema (p = 0.22). One child with syndromic unicoronal synostosis required repeated surgery for ICH (0.96%).CONCLUSIONSPapilledema was not found in patients with unicoronal synostosis when they underwent surgery before the age of 1 year and was also very rare during follow-up. There was no relationship between papilledema and OFC stagnation.

Background: This study investigates the relationship between headache and the occurrence of signs associated with intracranial hypertension such as ophthalmic signs, restricted skull growth, and a vertex bulge in children who were operated on for sagittal synostosis. Methods: A total of 94 patients (aged 6 to 18 years) with sagittal synostosis were asked to indicate their headache frequency. Based on their age at referral, the patients had undergone either frontobiparietal remodeling or an extended strip craniotomy. Data on funduscopy, optical coherence tomography, occipitofrontal head circumference, and presence of vertex bulge on radiography were collected retrospectively. Results: Univariate analysis showed that extended strip craniotomy, the occurrence of ophthalmic signs, and a smaller occipitofrontal head circumference at last follow-up were related to more frequent headaches (p = 0.01, p = 0.04, and p < 0.01, respectively). On multivariate analysis, only type of surgery and occipitofrontal head circumference at last follow-up remained significant predictors (p = 0.04 and p < 0.01, respectively). Conclusions: Although the reported rate of frequent headaches in this study is within the norm reported for the normal population, this study shows that after correction for sagittal craniosynostosis, frequent headaches are independently related to type of surgery and to occipitofrontal head circumference at last follow-up. Headaches in the sagittal craniosynostosis population may be related to papilledema and/or an increased total retinal thickness. Therefore, the authors recommend that occipitofrontal head circumference be routinely measured and that patients be asked about the occurrence and frequency of headaches during their checkup at the clinic. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, III.

This is a PDF file of an article that has undergone enhancements after acceptance, such as the addition of a cover page and metadata, and formatting for readability, but it is not yet the definitive version of record. This version will undergo additional copyediting, typesetting and review before it is published in its final form, but we are providing this version to give early visibility of the article. Please note that, during the production process, errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain.