- Department of Neurological Surgery, New York Medical College, Valhalla, New York, USA
Yin C. Hu
Department of Neurological Surgery, New York Medical College, Valhalla, New York, USA
DOI:10.4103/2152-7806.142796Copyright: © 2014 Neil JA. 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: Neil JA, Li D, Stiefel MF, Hu YC. Symptomatic de novo arteriovenous malformation in an adult: Case report and review of the literature. Surg Neurol Int 13-Oct-2014;5:148
How to cite this URL: Neil JA, Li D, Stiefel MF, Hu YC. Symptomatic de novo arteriovenous malformation in an adult: Case report and review of the literature. Surg Neurol Int 13-Oct-2014;5:148. Available from: http://sni.wpengine.com/surgicalint_articles/symptomatic-de-novo-arteriovenous-malformation-in-an-adult-case-report-and-review-of-the-literature/
Background:Cerebral arteriovenous malformations (AVMs) have been long thought to be a congenital anomaly of vasculogenesis in which arteries and veins form direct connections forming a vascular nidus without an intervening capillary bed or neural tissue. Scattered case reports have described that AVMs may form de novo suggesting they can become an acquired lesion.
Case Description:The current case report describes a patient who presented with new-onset seizures with an initial negative magnetic resonance imaging (MRI) of the brain and subsequently developed an AVM on a MRI 9 years later.
Conclusion:This case joins a small, but growing body of literature that challenges the notion that all AVMs are congenital.
Keywords: AVM, arteriovenous malformation, AVM formation, adult onset AVM, de novo AVM
Cerebral arteriovenous malformations (AVMs) are abnormal vascular connections that form between arteries and veins, without an intervening capillary bed or neuronal tissues.[
History and presentation
The patient is a 24-year-old right-handed male with a past medical history significant for a seizure disorder. He experienced his first seizure at age 15, resulting in a severe facial burn after falling on a home heater. An initial MRI of the brain was performed, which was negative [
After a thorough discussion about the natural history and treatment options (observation, microsurgical, and radiosurgery), the patient elected to have the AVM resected. The patient underwent presurgical Onyx (eV3 Neurovascular Inc., Irvine, CA) embolization of the AVM followed by a left parietal craniotomy and resection of the AVM without complication or morbidity. Postoperative cerebral angiography demonstrated no residual AVM nidus or early venous drainage. The hospital course was unremarkable and the patient was discharged home on postoperative day three. At 6 months follow-up, the patient remained seizure free and not on antiepileptic medications.
Although cerebral AVMs have traditionally been considered congenital lesions, there is an increasing number of case reports of de novo AVMs [
The pathogenesis of AVMs remains ill defined. It is a widespread belief that AVMs are congenital, arising between weeks 4-8 of embryological growth.[
Genetic etiologies for cerebral AVMs are also currently being explored. AVMs have been known to occur in the context of certain genetic disorders, such as hereditary hemorrhagic telangiectasia (HHT), Wyburn–Mason syndrome, and Sturge–Weber syndrome. Through studies of knockout mice modeled after the loss-of-function mutations found in HHT, a genetic two-hit mechanism has been proposed for the development of AVMs.[
The growing number of sporadic cases of cerebral AVMs still warrants an explanation. Some studies suggest that germ-line mutations of certain proteins may be involved in AVM development.[
Thus the pathomechanism of cerebral AVMs remains incompletely elucidated. The theory of congenital formation of all cerebral AVMs is being challenged as de novo AVMs are increasingly being reported. This case report documents a rare occurrence of a symptomatic de novo AVM in an adult male with no prior vascular cerebral pathology with an initial negative MRI at age 15 who subsequently developed an AVM on later imaging, providing further evidence that not all cerebral AVMs are congenital.
The authors have no personal or institutional interest with regard to the authorship and/or publication of this manuscript.
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