Multiple cerebral cavernous malformations

Case contributed by Dr Bruno Di Muzio

Presentation

Follow-up of a known condition.

Patient Data

Age: 30-year-old
CT

CT Brain

There are multiple subtle ill-defined hyperdense foci scattered through the brain, some of which show faint enhancement. The largest discrete lesion is probably in the right middle cerebellar peduncle, measuring approximately 7 mm in size. No acute haemorrhage (away from the hyperdense lesions) or mass effect is detected. The ventricles and sulci are normal in size.

MRI

MRI Brain

Multiple nodular foci of low signal and marked blooming artefact are again demonstrated scattered through the brain, brainstem, and cerebellum, with at least two new foci when compared to the last MRI brain. Bilateral subcortical low signal consistent with haemosiderin staining are again demonstrated, more significant in the right frontoparietal region. No evidence of acute haemorrhage. Ventricles and basal cisterns are normal in appearance. MRA demonstrates no malformation, aneurysm, stenosis or other vascular abnormality.

Case Discussion

This case demonstrates an exuberant presentation of multiple cerebral cavernous malformations

Although no further clinical details were available, this case raises the possibility of familial multiple cavernous malformation syndrome

This condition is inherited in an autosomal dominant manner, although cases caused by de novo gene mutations are recognised.

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Case information

rID: 48436
Case created: 7th Oct 2016
Last edited: 5th Sep 2017
Tag: rmh
Inclusion in quiz mode: Included

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