- The previous gradient echo images show multiple foci of chronic hemorrhages, suggestive of multiple cavernous malformations. This patient likely has familial multiple cavernous malformation syndrome, which has been linked to the KRIT1 gene.
- Cavernous malformations are though to comprise 5-13% of vascular lesions with an incidence of approximately 0.5%.
- There are 2 forms of cavernous malformations:
- A sporadic form which usually occur as solitary lesions.
- An inherited form, as in this case, called Familial multiple cavernous malformation syndrome, which is rare.
- Peak presentation is 40-60 years, with familial cavernous malformations tending to present earlier.
- No sex predominance
- Familial multiple cavernous malformation syndrome
- Autosomal dominant
- Frequency unknown
- Symptoms at presentation are the same as for the sporadic type.
- Linked to mutations in KRIT1 gene on chromosome 7
- KRIT1 is critical for maintaining the integrity of endothelial cell junctions and may play a role in microtubule targeting.
- Mainly described in Hispanic families, occurs in other ethnicities.
- Presence of multiple lesions is characteristic of this familial form (often over 5)
- Zabramski types 3 and 4 are most common lesions seen in these patients.
- Zabramski type 1 and 2 lesions are more likely to be seen in symptomatic patients.
- Number of lesions appears to increase with patient age.
- Risk of intralesional hemorrhage 1% per lesion per year is higher than for sporadic types (risk 0.25-0.7% per year).
- Fatal hemorrhages have been reported.
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