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Two cases of familial cerebral cavernous malformation caused by mutations in the CCM1 gene

Im-Yong Yang, Mi-Sun Yum, Eun-Hee Kim, Hae-Won Choi, Han-Wook Yoo, Tae-Sung Ko

Clin Exp Pediatr. 2016;59(6):280-284. Published online June 30, 2016

Crossref 5

Cerebral cavernous malformation (CCM) is a vascular malformation characterized by abnormally enlarged capillary cavities without any intervening neural tissue. We report 2 cases of familial CCMs diagnosed with the CCM1 mutation by using a genetic assay. A 5-year-old boy presented with headache, vomiting, and seizure-like movements. Brain magnetic resonance imaging (MRI) revealed multiple CCM lesions in the cerebral hemispheres. Subsequent...

DOI: https://doi.org/10.3345/kjp.2016.59.6.280

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