Aggressive course of multiple de novo cavernous malformations

Abstract

The risk of hemorrhage from an intracerebral cavernous malformation has been estimated at 2%–4% per year. In patients with multiple cavernous malformations, typically there are 1 or 2 dominant lesions that result in symptoms. This report highlights an unusual case of recurrent hemorrhage from de novo cavernous malformations. This 35-year-old man had a generalized seizure in 2007. Magnetic resonance imaging performed at the time showed multiple hemorrhagic lesions suggestive of cavernous malformations. Two years later, the patient had clinical symptoms referable to a midbrain hemorrhage. This lesion was not present on 2007 standard and gradient echo images. One year later, the patient had another clinical hemorrhage at the cervical medullary junction. This lesion was also not present on earlier imaging. Genetic testing was negative for the known familial types of cavernous malformation. A lesion was biopsied to ensure correct diagnosis, and the results were pathologically consistent with a cavernous malformation. The patient had a fourth clinical hemorrhage in 2011 from a separate lesion. All hemorrhage symptoms were mild, and he returned to normal functioning and work after each hemorrhage. This case highlights several unusual features of the known natural history of intracerebral cavernous malformations. In this case, resection of the hemorrhagic lesion would not have altered future hemorrhage risk since each new hemorrhage was from a de novo lesion.