Cavernous malformations

David S Liebeskind MD (Dr. Liebeskind of the University of California in Los Angeles received consulting fees from Stryker and Medtronic.)
Steven R Levine MD, editor. (Dr. Levine of the SUNY Health Science Center at Brooklyn has received honorariums from Genentech for service on a scientific advisory committee and a research grant from Genentech as a principal investigator.)
Originally released April 10, 1995; last updated January 22, 2017; expires January 22, 2020

This article includes discussion of cavernous malformations, cavernoma, cavernous angioma, and cavernous hemangioma. The foregoing terms may include synonyms, similar disorders, variations in usage, and abbreviations.

Overview

Cerebral cavernous malformations are vascular lesions that may cause hemorrhage, seizures, headaches, cranial neuropathies, or neurologic manifestations reflecting lesion location. Sporadic and familial forms of this disorder are increasingly recognized with the advent of gradient-echo MRI. Genetic studies have elucidated at least 3 genes associated with familial forms of this disorder, suggesting abnormal angiogenic stimuli as an important etiopathogenic factor. In this article, the author summarizes the clinical features and data related to this syndrome.

Key points

 

• Cerebral cavernous malformations are an increasingly recognized cause of intracranial hemorrhage that can be detected with MRI.

 

• Recurrent bleeds may occur, causing symptoms due to tissue injury and edema.

 

• Medical therapy primarily focuses on seizure control, and surgery is possible in selected cases.

Historical note and terminology

The existence of vascular anomalies of the brain has been known for over 100 years. The first reported case dates to 1895, in the works of Steinheil (Olivecrona and Ladenheim 1957), whereas the classic study of "angiomatous angiomas" by Virchow constitutes the first comprehensive work on cerebral vascular malformations (Cushing and Bailey 1928). Over the past century, the elucidation of these anomalies has challenged the most illustrious minds in neurosurgery and neuropathology. In 1928 Cushing and Bailey, through meticulous observation and documentation of autopsy and surgical specimens, made the critical distinction between true vascular tumors and congenital malformation of blood vessels (Cushing and Bailey 1928). Subsequently, Olivecrona devised a classification system for the latter based on etiology and pathology. He classified cavernous malformations as distinct from the racemose lesions, which included arteriovenous, venous, and capillary malformations (Olivecrona and Ladenheim 1957). In their landmark reports, Russel and Rubenstein, as well as McCormick proposed more stringent classification systems for cerebral vascular malformations. They recognized 4 discrete entities: (1) arteriovenous malformation, (2) capillary telangiectasias, (3) venous malformations, and (4) cavernous malformations (McCormick 1966; Russel and Rubenstein 1977). This categorization forms the basis of our current classification of these lesions. The evolution of the nomenclature of intracranial vascular malformations (from the original, vague and all-encompassing term "angiomatous arteriovenous aneurysms," to the nondescript "angioma," to the currently accepted "cavernous malformation") reflects the evolution of consensus regarding their pathophysiology. Collaborative efforts have delineated the key research priorities on cavernous malformations (Al-Shahi Salman et al 2016).

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