A 46-year-old woman with a 2-year history of headache and nausea presented to the neurosurgery clinic. A physical examination revealed a palpable mass in the right frontal region. The neurologic evaluation had unremarkable results. Magnetic resonance imaging (MRI) of the head showed a right frontal extra-axial intraosseous mass. The lesion presented with atypical imaging features, with hypointensity on T1-weighted images, hyperintensity on T2-weighted images, and homogeneous enhancement on enhancing MRI (Figure 1A). The lesion was stable in size during the follow-up of 2 years and presented with nonaggressive features and a stippled appearance. The main differential diagnosis list includes an aneurysmal bone cyst, osteoma, osteosarcoma, fibrous dysplasia, giant cell tumor, osteolytic intraosseous meningioma, osteolytic metastases, and Paget disease. Susceptibility-weighted imaging revealed numerous lesions consistent with cerebral cavernous malformations (CCMs) involving the cerebral hemispheres bilaterally (Figure 1B). The multiple lesions detected by susceptibility-weighted imaging were not visible on T1-weighted or T2-weighted images. A spinal MRI was performed, and no vertebral lesions were detected. The patient declared that she had no family history of CCMs.
Ren J, Wei Y, Hong T. Combined Cranial Intraosseous and Cerebral Cavernous Malformations With Pathogenic CCM1 Germline Sequence Variations. JAMA Neurol. 2021;78(2):247–248. doi:10.1001/jamaneurol.2020.4134
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