Case Report: Glioblastoma Multiforme Complicating Familial Cavernous Malformations

Abstract

Cerebral cavernous malformations (CCMs) are vascular lesions characterized by enlarged capillary cavities without intervening brain parenchyma, and may be sporadic or familial [2]. Their prevalence is close to 0.5 % in the general population [22]. Familial CCMs are increasingly diagnosed, and newer susceptibility-weighted imaging (sWI) sequences are more sensitive to detection than conventional T2-weighted gradient echo (T2*-Gre) [5]. These lesions have an autosomal dominant inheritance with associated genes mapped to the long and short arms of chromosomes 7, and to the long arm of chromosome 3 [4, 7]. Familial CCMs are multiple, with a 2000 retrospective study in 40 patients from 29 unrelated French families finding that the risk of acute hemorrhage was at least twice as high as that observed in sporadic cases, 13–17 % per patient-year or 2–2.5 % per lesion-year [14]. Usually, CCMs can be differentiated from hemorrhagic malignant lesions of the brain such as metastases and glioma. CCMs generally lack mass effect or surrounding vasogenic edema, but these features may be observed in the settings of acute hemorrhage. occasionally, follow-up is performed for CCMs demonstrating surrounding edema on T2-weighted Mr sequences. While numerous “collision” tumors have been reported in the literature, glial neoplasms occurring in an existing CCM are extremely rare. An ependymoma, anaplastic oligo-astrocytoma, and oligo-dendroglioma have all been observed [3, 8, 25]. The exact etiological relationship between CCMs and these lesions is unclear. We report a case of high-grade glial neoplasm complicating familial cavernomatosis, which has not been described until very recently [19]. The described case highlights features of presumed cavernous malformations that should be viewed with suspicion.