Sensitivity of patients with familial cerebral cavernous malformations to therapeutic radiation

Abstract

Familial cerebral cavernous malformations are autosomal dominant conditions that can result in significant morbidity. A two-hit mechanism is accepted as likely responsible for formation of these malformations. We present two patients with this disease who received therapeutic radiation and developed very high numbers of malformations within the radiation ports, supporting radiation as an accelerator of lesion formation and suggesting implications for risks of radiation in this disease.

Keywords: magnetic resonance imaging; neuroradiology.

Conflict of interest statement

Conflicts of Interest: none

© 2015 The Royal Australian and New Zealand College of Radiologists.

Figures

Figure 1

A (left) and B (right): Susceptibility-weighted MRI axial images show extensive CCM burden (both large and small) in the brain with relative sparing of the anterior and posterior cerebrum, indicating a central brain radiation port was used (dashed lines). As a result of his extensive disease burden, this patient has poor neurological function, residing in a group home and using a walker for ambulation. There is a chronic left subdural hematoma caused by lack of coordination and balance with numerous related falls.

Figure 2

A (left) and B (right): Axial MRI susceptibility-weighted images. Nasopharyngeal carcinoma treatment resulted in bilateral temporal lobe exposure to therapeutic doses of radiation (estimated 70 Gy). Note the much higher density of CCM lesions (both large and small) in the temporal lobes (dashed lines) compared to the remaining brain (A). The cerebellum was also exposed to therapeutic radiation (estimated 50 Gy) and likewise has a heavy CCM burden (B).

Figure 2

A (left) and B (right): Axial MRI susceptibility-weighted images. Nasopharyngeal carcinoma treatment resulted in bilateral temporal lobe exposure to therapeutic doses of radiation (estimated 70 Gy). Note the much higher density of CCM lesions (both large and small) in the temporal lobes (dashed lines) compared to the remaining brain (A). The cerebellum was also exposed to therapeutic radiation (estimated 50 Gy) and likewise has a heavy CCM burden (B).