Familial cerebral cavernous malformation syndrome

Presentation

Acute vertiginous episode and right-sided weakness.

Patient Data

Age: 50 years
Gender: Male

Evidence of multiple intra-axial calcified lesions representing cavernomas, approximately 10 in each cerebral hemisphere, with a dominant lesion at the left superior frontal gyrus measuring 12 mm in the axial plane.
Patchy hyperdensity on the basal aspect of the right temporal lobe, likely corresponding to hemosiderin staining.
No evidence of acute/recent intracranial hemorrhage.

Numerous focal hemosiderin content lesions at all locations of supra and infratentorial structures. The largest noted at the left posterior frontal and anterior parietal cortex with encephalomalacic changes. No evidence of edema related to any of the lesions to suggest recent bleed.

Small lesion within the left lateral aspect of the spinal cord at T2-T3 level measuring 5 mm in axial diameter and 6 mm in craniocaudal length. It is very mildly hyperintense relative to the cord on T1 and hyperintense on T2 with thick hemosiderin rim. No surrounding spinal cord edema.

Case Discussion

This patient has a known multiple cavernoma mutation KRIT1.

The present case illustrates the main characteristics of familial cerebral cavernous malformation syndrome. It has been established that most cerebral cavernous malformations are sporadic or without any hereditary association and that a low percentage is secondary to specific genetic mutations: MCC1 (KRIT1), MCC2 (MGC4607), and MCC3 (PDCD10). A proportion of these patients may present symptoms depending on the location of the lesions, leading to symptoms such as headache or seizures mainly.

Neuroimaging is essential to determine the extent of the disease, follow up patients, and detect complications. It has been described in the literature recently that there is a positive correlation between the number of brain lesions and the concomitant presence of intramedullary lesions. 

The case was contributed by Dr Raquel DelCarpio, Associate Professor of Neuroradiology at McGill University.

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Case information

rID: 78862
Published: 17th Jun 2020
Last edited: 23rd May 2021
Inclusion in quiz mode: Included
Institution: McGill University

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