Multiple Cavernomas in KRIT-1 Gene Mutation

 

A person with known in family KRIT-1 gene mutation shows multiple (uncountable number) cavernous malformations (cavernomas) on the SWI sequence (most to the left on both images). The largest one located temporo-occipital in the right hemisphere (to the left on the images) is visible on T2 sequence and hardly noticeable on T1 without and with Gd contrast. Other multiple cavernomas are hard to spot on other sequences. Same situation in the posterior fossa. 

According to the literature: 

"The KRIT1 gene (also known as CCM1) provides instructions for making a protein that strengthens the interactions between cells that form blood vessels and limits leakage from the vessels."  https://medlineplus.gov/genetics/gene/krit1/

"Mutations in Krev1 interaction trapped gene 1 (KRIT1) cause cerebral cavernous malformation, an autosomal dominant disease featuring malformation of cerebral capillaries resulting in cerebral hemorrhage, strokes, and seizures."  https://pubmed.ncbi.nlm.nih.gov/12140362/

Please note how important is the SWI sequence showing the vascular malformations (hemosiderin) the best. The second best sequence to look at the cavernous malformation structure is high quality T2 sequence - best on 3T MRI. 



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