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

Florisson, Joyce M.G.; Barmpalios, Georgios; Lequin, Maarten H.; Veelen, Marie-Lise C. van; Bannink, Natalja; Hayward, Richard; Mathijssen, Irene M.J.

doi:10.1016/j.jcms.2014.11.023

Cited by 41 publications

(47 citation statements)

References 33 publications

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“…A review of our cohort demonstrated a risk in more than 80% of patients with raised ICP with potential implications on visual and cognitive function [Hayward, 2005;Florisson et al, 2015]. Pfeiffer syndrome frequently presents some of the greatest clinical challenges and urgency of syndromic craniosynostoses.…”

Section: Pfeiffer Syndromementioning

confidence: 90%

Syndromic Craniosynostosis: Complexities of Clinical Care

et al. 2019

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Patients with syndromic craniosynostosis have a molecularly identified genetic cause for the premature closure of their cranial sutures and associated facial and extra-cranial features. Their clinical complexity demands comprehensive management by an extensive multidisciplinary team. This review aims to marry genotypic and phenotypic knowledge with clinical presentation and management of the craniofacial syndromes presenting most frequently to the craniofacial unit at Great Ormond Street Hospital for Children NHS Foundation Trust.

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Section: Pfeiffer Syndromementioning

confidence: 90%

Syndromic Craniosynostosis: Complexities of Clinical Care

et al. 2019

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“…A small subset of patients with restricted skull growth (e.g., Pfeiffer or Crouzan syndrome) and stenosis of the jugular foramen will convert their normal intracranial venous drainage pattern to a transosseous pattern via emissary veins. 19 This can be assessed preoperatively with MRI or CT venography and, if severe, may preclude standard posterior fossa approaches (Fig. 6).…”

Section: Complications Of Surgical Decompression In Cimmentioning

confidence: 99%

The Chiari I malformation

McClugage¹,

Oakes²

2019

Journal of Neurosurgery: Pediatrics

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As with many pathologies, the course of our understanding of the Chiari I malformation (CIM) has developed extensively over time. The early descriptions of the Chiari malformations by Hans Chiari in 1891 opened the door for future classification and research on this topic. However, even over a long timeframe, our understanding of the pathophysiology and, more importantly, treatment, remained in its infancy. As recently as the 1970s, CIM was not discussed in popular neurology textbooks. Syringomyelia is listed as a degenerative disorder with no satisfactory treatment. Radiation therapy was considered an option in treatment, and surgery was thought to play no role. During the last 40 years, equivalent to the duration of a neurosurgical career, our understanding of the pathophysiology and natural history of CIM, coupled with modern MRI, has improved the treatment paradigm for this patient population. More importantly, it has given us evidence confirming that CIM is a disorder responsive to surgical intervention, giving patients once thought to be destined for lifelong disability a comparatively normal life after treatment. The purpose of this article is to offer a review of CIM and its important associated entities. The authors will discuss the evolution in understanding of the Chiari malformation and, importantly, distinguish between symptomatic CIM and asymptomatic tonsillar ectopia, based on imaging and presenting symptomatology. They will discuss techniques for surgical intervention, expected outcomes, and complications after surgery. Proper patient selection for surgery based on appropriate symptomatology is tantamount to achieving good surgical outcomes in this population, separating those who can be helped by surgery from those who are unlikely to improve. While our knowledge of the Chiari malformations continues to improve through the efforts of clinical and basic science researchers, surgeons, and patients, our current understanding of these entities represents a monumental improvement in patient care over a relatively short time period.

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“…There might even be a disadvantage to this enlarged volume by the consequent elongation of the white fibers. (3) Venous outflow obstruction manifests as abnormal venous collaterals and dilated emissary veins, particularly at the occipital area [27]. This appears to be a congenital abnormality of the venous system, and not so much a compensating reaction to ICHT.…”

Section: Article Highlightsmentioning

confidence: 99%

Apert syndrome: the Paris and Rotterdam philosophy

Driessen

vanVeelen-Vincent

Joosten

et al. 2017

Expert Opinion on Orphan Drugs

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Introduction: Apert syndrome is a rare type of syndromic craniosynostosis. Patients have an explicit phenotype with craniofacial dysmorphologies and severe symmetrical syndactyly of the hands and feet. This review includes background information about the syndrome and several aspects of the treatment. Areas covered: The cause of Apert syndrome is found in unique mutations in the Fibroblast Growth Factors Receptor (FGFR) 2 gene in 99%. It results in cranial suture fusion, craniofacial dysmorphologies and severe symmetrical syndactyly of the hands and feet. Patients with Apert syndrome are at risk for mental retardation, mobility impairment and intracranial hypertension (ICHT). This is the result of a complex interaction between (1) abnormal skull growth, (2) ventriculomegaly, (3) venous outflow obstruction and (4) obstructive sleep apnea (OSA). Mental retardation is mainly determined by the FGFR2 mutation and treatment is directed at protecting the intrinsic potential of neurocognition. Expert Opinion: To prevent ICHT, we prefer an occipital expansion in the first year of life. Screening on ICHT and its underlying causes is necessary at least until the age of ten by means of skull circumference measurements, fundoscopy, optical coherence tomography, MRI and polysomnography. Multicentre studies on long-term outcome are required to validate the rationale of different clinical protocols. ARTICLE HISTORY

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

Cited by 41 publications

References 33 publications

Syndromic Craniosynostosis: Complexities of Clinical Care

Syndromic Craniosynostosis: Complexities of Clinical Care

The Chiari I malformation

Apert syndrome: the Paris and Rotterdam philosophy

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