Familial Cerebral Cavernous Malformation Mimicking Cerebral Amyloid Angiopathy

A 67-year-old man was referred from ophthalmology for possible cerebral amyloid angiopathy (CAA) discovered during work-up of possible optic neuropathy. MRI (figure) demonstrated innumerable periventricular, brainstem, and cortical cerebral microhemorrhages (CMHs). Scattered, nonspecific white matter hyperintensities were seen on T2-weighted imaging without surrounding hypointense rim. He had no hypertension, and the distribution was uncharacteristic for CAA. Despite absent family history of stroke or seizure, testing for familial cerebral cavernous malformation (FCCM) identified a pathogenic mutation of KRIT1 (c.382G>T).

Source: Neurology Clinical Practice - October 11, 2021 Category: Neurology Authors: Ridha, M., Aziz, Y., Broderick, J. Tags: All Cerebrovascular disease/Stroke, Intracerebral hemorrhage Case Source Type: research