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C) Cavernous malformation (AKA cavernous angioma)
- Cavernous malformations are benign vascular hamartomas which appear histologically as a “mulberry like” collection of thin walled vascular sinusoids which lack mural smooth muscle and intervening brain parenchyma.
- These lesions may bleed repeatedly, which may cause symptoms and leads to hemosiderin deposition.
- May occur anywhere in CNS, but most common in cerebral hemispheres.
- Most common symptoms at diagnosis are headaches, seizures, focal neurologic signs, and hemorrhage. Patients may also be entirely asymptomatic.
- MRI is the most sensitive modality for diagnosis of cavernous malformations.
- Zabramski classification
- Type 1: subacute hemorrhage (hyperintense on T1, variable T2)
- Type 2: loculated areas of hemorrhage surrounded by gliosis and hemosiderin stained brain. This is the classic “popcorn ball” lesion. Tend to produce recurrent symptoms. Variable T1 and T2 with degrading hemorrhage of various ages. The lesion in this case is a type 2, as it demonstrates hemosiderin staining and hemorrhage of various ages, including acute.
- Type 3: chronic resolved hemorrhage with hemosiderin staining. Iso-hypointense T1, Hypointense T2, markedly hypointense on T2*.
- Type 4: punctate microhemorrhages which are poorly seen except on T2* sequences where they are hypointense (“black dots”). Usually asymptomatic.
- CT negative in 30-50%. Calcification in 50%.
- Size may vary from microscopic to very large.
- These lesions are often angiographically occult
- May be associated with another vascular malformation, such as a developmental venous anomaly, in which case they are called a mixed vascular malformation
- Treatment is surgical resection.
Given the above MR coronal GRE images, what genetic mutation does this patient likely have?
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