Familial cerebral cavernous malformations
Log in to starLast updated 2mo ago
Log in to add personal notes on this page.
A patient with recurrent seizures and headaches has an MRI revealing multiple "popcorn-like" lesions with hemosiderin rings scattered throughout the brain.
AD; CCM1/KRIT1, CCM2, CCM3
- Multiple cavernous malformations (vascular)
- Seizures, headaches
- Hemorrhage risk
- MRI: "popcorn" appearance with hemosiderin rim
- Brain MRI with gradient-echo or susceptibility-weighted sequences is most sensitive; multiple lesions strongly suggest the familial form
- Confirm with molecular testing of KRIT1 (CCM1), CCM2, and PDCD10 (CCM3) via a multigene panel
- CCM3/PDCD10 is associated with earlier, more aggressive disease and meningiomas; screen at-risk relatives
- Neurosurgical resection for lesions causing symptomatic hemorrhage, intractable seizures, or progressive deficit in accessible locations; observation for asymptomatic deep lesions
- Antiseizure medication for epilepsy; counsel on hemorrhage warning signs
- Generally avoid anticoagulation/antiplatelet agents when possible; multidisciplinary neurology/neurosurgery follow-up with serial imaging
"CCM KaveRnous PITs in KRIT1": CCM1/KRIT1 is the most common gene. The cavernous malformations are like pits (caverns) in the brain and spinal cord.