Case Report: Glioblastoma Multiforme Complicating Familial Cavernous Malformations

Excerpt

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]. …