- Division of Neurointerventional Radiology, Department of Radiological Sciences, David Geffen School of Medicine, University of California, Los Angeles, California, USA
Division of Neurointerventional Radiology, Department of Radiological Sciences, David Geffen School of Medicine, University of California, Los Angeles, California, USA
DOI:10.4103/2152-7806.156772Copyright: © 2015 Jones J. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
How to cite this article: Jones J, Duckwiler G, Tateshima S. Rare cerebrovascular anomalies in a patient with Cornelia De Lange Syndrome. Surg Neurol Int 08-May-2015;6:74
How to cite this URL: Jones J, Duckwiler G, Tateshima S. Rare cerebrovascular anomalies in a patient with Cornelia De Lange Syndrome. Surg Neurol Int 08-May-2015;6:74. Available from: http://surgicalneurologyint.com/surgicalint_articles/rare-cerebrovascular-anomalies-patient-cornelia-de/
Background:Cornelia De Lange (CDL) is a rare genetic syndrome characterized by short stature, intellectual disability, skeletal abnormalities, and distinctive facial features. We present a case of CDL with several rare cerebrovascular anatomic variants that impacted the treatment of a direct cavernous carotid fistula (CCF).
Case Description:This 32-year-old male CDL patient suffered a direct, traumatic CCF on the left and presented to our institution for endovascular management. Cerebral angiography revealed several anatomic variants, including hypoplastic external carotid arteries bilaterally. The vascular territory typically supplied by the internal maxillary arteries was fed by a prominent vessel arising from the internal carotid artery (ICA) in the expected location of the vidian artery. This anatomic variant directly impacted management due to retrograde filling of the fistula, necessitating coil embolization at its origin from the left ICA.
Conclusion:Advance knowledge of cerebrovascular variants associated with CDL may help interventionalists prepare to approach such cases. Additionally, further inquiry into the function of proteins encoded by genes associated with CDL could better our understanding of vascular development in the brain.
Keywords: Anatomic variants, cavernous carotid fistula, Cornelia De Lange Syndrome, internal maxillary artery, vidian artery
Cornelia De Lange (CDL) is a rare genetic syndrome inherited in an autosomal dominant manner but more commonly resulting from de novo mutations in the NIPBL, SMC1A, and SMC3 genes.[
The patient is a 32-year-old male, previously diagnosed with CDL syndrome, who presented with left exophthalmos and chemosis following closed head trauma. Physical examination revealed a carotid bruit with auscultation over the left temporal area suggestive of direct traumatic cavernous carotid fistula (CCF).
Left common carotid angiogram demonstrated complete passage of blood from the left internal carotid artery (ICA) into the left cavernous sinus, with shunting into the right cavernous sinus, and subsequent drainage via the bilateral jugular veins. Additionally, the territory typically supplied by the left internal maxillary artery (IMAX) was fed by a prominent vessel originating from the horizontal segment of the left ICA [Figure
Figures 1 (a and b)
AP and lateral left CCA injection demonstrating complete passage of blood from the left internal carotid artery (ICA) into the left cavernous sinus, with shunting into the right cavernous sinus. A vessel supplying the IMAX territory is noted to arise from the petrous segment of the left ICA
Investigation of the posterior circulation via right vertebral injection revealed a large fenestration or unfused middle segment of the basilar artery. In addition, the distal basilar artery was unfused and the superior cerebellar arteries arose from the P1 segments of the posterior cerebral arteries bilaterally. A very prominent left posterior communicating artery fills the left supraclinoid ICA and bilateral cavernous sinuses (via direct CCF) in a retrograde fashion [
Right vertebral artery angiogram showing a large fenestration or unfused middle segment of the basilar artery. The distal basilar artery was unfused and the superior cerebellar arteries arose from the P1 segments of the posterior cerebral arteries bilaterally. A very prominent left posterior communicating artery fills the left supraclinoid ICA and bilateral cavernous sinuses (via direct CCF) in a retrograde fashion
Coil embolization was first performed from above, through a microcatheter advanced from the right vertebral artery across the left posterior communicating artery and into the left ICA. Following occlusion the superior cavernous portion of the left ICA, the fistula was trapped by coil-embolization of the inferior cavernous portion from below. Subsequent left CCA injection revealed retrograde filling of the CCF from branches of the putative IMAX via prominent anastomoses from external carotid artery at the same site [
CDL syndrome has been associated with abnormalities affecting almost every organ system. Several genes implicated in CDL control fetal limb and face development, in addition to other structures. Neurological features include ventriculomegaly, frontal lobe white matter hypoplasia, and vermian hypoplasia.[
Human fetal anatomic studies have described a primitive maxillary artery originating from the cavernous segment of the ICA, which may persist in the setting of contralateral agenesis.[
CDL is a rare genetic syndrome that may be associated with rare anatomical variants of the cerebrovasculature. Such anatomical variants should be sought and characterized during initial diagnostic angiography, as they may add complexity to the treatment of routinely encountered neurointerventional diseases. Further investigation into the relationship between genes involved in CDL syndrome and associated vascular variants may lead to a better understanding of cerebrovascular development.
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