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cerebral capillary malformation

MIM.116860

Wednesday 26 November 2003

Definition: Cerebral cavernous malformation is a venulocapillar vascular malformation.

Cerebral cavernous malformations (CCM) are hamartomatous vascular malformations characterized by abnormally enlarged capillary cavities without intervening brain parenchyma. They cause seizures and focal neurological deficits due to cerebral hemorrhages.

Etiology

CCM loci have already been assigned to chromosomes 7q (CCM1), 7p (CCM2), and 3q (CCM3) and have been identified in 40%, 20%, and 40%, respectively, of families with cerebral capillary malformation.

- Locus CCM1 at 7q21-q22: mutation in the gene CCM1 or KRIT1 (Krev interaction trapped-1) (MIM.604214) at 7q11.2-q21

- Locus CCM2 (MIM.603284) at 7p13: germline mutations of the C7ORF22 gene (MIM.607929)

- Locus CCM3 (MIM.603285) at 3q25.2-q27 : PDCD10 (programmed cell death 10) mutations (#15543491#)

Differential diagnosis

- cerebral arteriovenous malformation (cerebral AVM) (MIM.108010)
- diffuse hemangiomatosis (MIM.106070)
- hereditary neurocutaneous angioma (MIM.106070)

  • spinal arteriovenous malformtions with cutaneous malformations (MIM.106070)
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