Priya N. Doerga, Maarten H. Lequin, Marjolein H. G. Dremmen, Bianca K. den Ottelander, Katya A. L. Mauff, Matthias W. Wagner, Juan A. Hernandez-Tamames, Sarah L. Versnel, Koen F. M. Joosten, Marie-Lise C. van Veelen, Robert C. Tasker and Irene M. J. Mathijssen
In comparison with the general population, children with syndromic craniosynostosis (sCS) have abnormal cerebral venous anatomy and are more likely to develop intracranial hypertension. To date, little is known about the postnatal development change in cerebral blood flow (CBF) in sCS. The aim of this study was to determine CBF in patients with sCS, and compare findings with control subjects.
A prospective cohort study of patients with sCS using MRI and arterial spin labeling (ASL) determined regional CBF patterns in comparison with a convenience sample of control subjects with identical MRI/ASL assessments in whom the imaging showed no cerebral/neurological pathology. Patients with SCS and control subjects were stratified into four age categories and compared using CBF measurements from four brain lobes, the cerebellum, supratentorial cortex, and white matter. In a subgroup of patients with sCS the authors also compared longitudinal pre- to postoperative CBF changes.
Seventy-six patients with sCS (35 female [46.1%] and 41 male [53.9%]), with a mean age of 4.5 years (range 0.2–19.2 years), were compared with 86 control subjects (38 female [44.2%] and 48 male [55.8%]), with a mean age of 6.4 years (range 0.1–17.8 years). Untreated sCS patients < 1 year old had lower CBF than control subjects. In older age categories, CBF normalized to values observed in controls. Graphical analyses of CBF by age showed that the normally expected peak in CBF during childhood, noted at 4 years of age in control subjects, occurred at 5–6 years of age in patients with sCS. Patients with longitudinal pre- to postoperative CBF measurements showed significant increases in CBF after surgery.
Untreated patients with sCS < 1 year old have lower CBF than control subjects. Following vault expansion, and with age, CBF in these patients normalizes to that of control subjects, but the usual physiological peak in CBF in childhood occurs later than expected.
Bianca K. den Ottelander, Robbin de Goederen, Marie-Lise C. van Veelen, Stephanie D. C. van de Beeten, Maarten H. Lequin, Marjolein H. G. Dremmen, Sjoukje E. Loudon, Marieke A. J. Telleman, Henriëtte H. W. de Gier, Eppo B. Wolvius, Stephen T. H. Tjoa, Sarah L. Versnel, Koen F. M. Joosten and Irene M. J. Mathijssen
The authors evaluated the long-term outcome of their treatment protocol for Muenke syndrome, which includes a single craniofacial procedure.
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.
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.
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.
Stephanie D. C. van de Beeten, Martijn J. Cornelissen, Renee M. van Seeters, Marie-Lise C. van Veelen, Sarah L. Versnel, Sjoukje E. Loudon and Irene M. J. Mathijssen
Unicoronal 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.
The 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.
In 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%).
Papilledema 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.
Irene Mathijssen, Robbin de Goederen, Sarah L. Versnel, Koen F. M. Joosten, Marie-Lise C. van Veelen and Robert C. Tasker