Venous hypertension in syndromic and complex craniosynostosis: The abnormal anatomy of the jugular foramen and collaterals

Why craniosynostosis patients develop elevated intracranial pressure (ICP) is still a mystery. Our aim was to investigate jugular foramen size and its relation to venous hypertension and elevated ICP. Secondly, we evaluated whether occipital collateral veins develop as a compensatory mechanism for elevated ICP. We conducted a prospective study in 41 children with craniosynostosis who underwent a 3D-CT-angiography. We evaluated the anatomical course of the jugular vein, the diameter of the jugular foramen and the relation to the presence of papilledema. Additionally, we studied the anatomical variations of the cerebral venous drainage system. The diameter of the jugular foramen was significantly smaller in our patients. Abnormal venous collaterals were most often observed in patients with Apert, Crouzon Pfeiffer and Saethre Chotzen syndrome, even in children under two years of age. There was no significant difference in the number of collateral veins in patients with or without papilledema. Collaterals appear to reflect an inborn abnormality of the venous system, rather than a compensating mechanism for elevated ICP. This study confirms the presence of jugular foraminal narrowing in craniosynostosis patients and an abnormal venous system, which may predispose to elevated ICP. Level of Evidence: Diagnostic II. (C) 2014 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved

Are ultrasonography measurements of optic nerve sheath diameter an alternative to funduscopy in children with syndromic craniosynostosis? Clinical article

Object. Children with syndromic or complex craniosynostosis are evaluated for increased intracranial pressure (ICP) using funduscopy to detect papilledema. However, papilledema is a late sign of increased ICP. Because papilledema might be preceded by an increase in optic nerve sheath (ONS) diameter, the authors conducted a prospective study to establish the validity and applicability of measuring the ONS using ultrasonography. Methods. From January 2007 to December 2009, 175 bilateral ultrasonography ONS measurements were performed in 128 patients with syndromic or complex craniosynostosis during the daytime. The measurements were correlated with ONS diameter assessed on CT and simultaneous funduscopy, when available. Furthermore, results were compared by using thresholds for ONS diameters on ultrasonography that are available in the literature. Results. The mean ONS diameter on ultrasonography was 3.1 +/- 0.5 mm. The CT measurement was significantly correlated with the ultrasonography measurement (r = 0.41, p < 0.001). The mean ONS diameter in 38 eyes with papilledema was 3.3 +/- 0.5 mm, compared with 3.1 +/- 0.5 mm in the eyes of patients without papilledema (p = 0.039). Relative to the age-related thresholds, the ONS diameter was too large in 11 eyes (3%), particularly in patients with Crouzon syndrome. Compared with funduscopy, ultrasonography sensitivity was 11%, specificity was 97%, and positive and negative predictive values were 40% and 86%, respectively. Conclusions. Ultrasonography is a valid and easy way of quantifying the ONS. Although the ONS diameter is larger in children with papilledema, it cannot be used as a daytime screening tool instead of funduscopy. The ONS diameter is possibly a more real-time indicator of ICP. (DOI: 10.3171/2011.6.PEDS10547

Long-term functional outcome in 167 patients with syndromic craniosynostosis; defining a syndrome-specific risk profile

Objective: Little is known about the long-term prevalence of elevated intracranial pressure (ICP), obstructive sleep apnoea (OSA), level of education, language and motor skills, impaired sight and hearing in craniosynostosis syndromes. The objective of this study was to define the prevalence per syndrome of elevated ICP, OSA, impaired sight and impaired hearing. Methods: A retrospective study was undertaken on 167 consecutive patients diagnosed with Apert, Crouzon, Pfeiffer, Muenke or Saethre-Chotzen syndrome, aged 1-25 years and treated between 1983 and 2008. The mean age at time of referral and review was 1 years and 2 months and 10 years and 3 months, respectively. Results: Patients with Apert and Crouzon/Pfeiffer syndromes had the highest prevalence of elevated ICP (33% and 53%, respectively) and OSA (31% and 27%, respectively), while Saethre-Chotzen syndrome was also associated with a fair risk for elevated ICP (21%). The prevalence of impaired sight (61%) and hearing (56%) was high in all syndromes. Conclusion: Based on these data, a syndrome-specific risk profile with suggestions for screening and treatment is presented. (C) 2009 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved