Familial multiple cavernous malformation syndrome

Case contributed by Michael Burns
Diagnosis almost certain

Presentation

CT performed for confusion and fever following tropical travel. Mild problems with balance and coordination for last 7 years. Family member had resection of a symptomatic cerebellar cavernous malformation.

Patient Data

Age: 65 years
Gender: Male

Heavily calcified probably slow growing right cerebellar tumor.

Multiple small hyperdense lesions within the brain which may represent small areas of petechial hemorrhage, localized areas of calcification or possibly tumor metastasis.  

Three left thalamic and left caudate head hypodense lesions, likely lacunar infarcts.

The susceptibility-weighted sequence shows innumerable hypointense lesions (greater than 100 in number) throughout the gray and white matter of the cerebral hemispheres, the basal ganglia, thalami, brainstem and cerebellum. They demonstrate blooming artifact and are consistent with cavernomas with hemosiderin staining. They are much more numerous than appreciated on the CT.

The largest lesion represents the previously noted partially calcified right cerebellar lesion. This lesion measures 2.5 x 2.3 x 1.4 cm. No adjacent vasogenic edema. It is nonenhancing, as are the remaining smaller lesions. No lesions showing restricted diffusion.

Mild T2 weighted hyperintensity throughout the periventricular white matter, most in keeping with chronic small vessel ischemic change. 

3 subcentimeter mature lacunar infarcts are present within the left head of caudate nucleus, anterior thalamus and anterior limb internal capsule, as seen on CT. 

Impression:

Very numerous lesions throughout the brain with blooming artifact representing cavernomas. The appearance is consistent with familial multiple cavernous malformation syndrome.

Case Discussion

The combination of very numerous cerebral cavernous malformations and a positive family history is consistent with the diagnosis of familial multiple cavernous malformation syndrome.

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