Systemic hemangiomatosis with a deletion in the KRIT1 gene: an unusual manifestation of cerebral cavernous malformation
Odum, Brian R.
Anthony, Douglas C.
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Cavernous hemangiomas are common hamartomatous vascular proliferations often seen as incidental solitary lesions. Rarely they occur as multifocal lesions, often in characteristic locations as part of a hereditary syndrome. We report a case of systemic hemangiomatosis with multifocal involvement of the CNS, spleen, liver, adrenal, and axial skeleton recognized at autopsy. Systemic hemangiomatosis involving solid organs, the central nervous system, and bone has been described in case reports, but this collection of findings is exceedingly rare. We hypothesized that the anomalies noted at autopsy in this case might represent sporadic cerebral cavernous malformation (CCM1), specifically de novo mutation of KRIT1.
2012 Health Sciences Research Day