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Images in Neurology
November 2, 2020

Combined Cranial Intraosseous and Cerebral Cavernous Malformations With Pathogenic CCM1 Germline Sequence Variations

Author Affiliations
  • 1Department of Neurosurgery, Xuanwu Hospital, Capital Medical University, China International Neuroscience Institute, Beijing, China
JAMA Neurol. 2021;78(2):247-248. doi:10.1001/jamaneurol.2020.4134

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.

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