PT  - JOURNAL ARTICLE
AU  - Ridha, Mohamed
AU  - Aziz, Yasmin
AU  - Broderick, Joseph
TI  - Familial Cerebral Cavernous Malformation Mimicking Cerebral Amyloid Angiopathy
AID  - 10.1212/CPJ.0000000000001055
DP  - 2021 Jan 18
TA  - Neurology: Clinical Practice
PG  - 10.1212/CPJ.0000000000001055
4099  - http://cp.neurology.org/content/early/2021/01/25/CPJ.0000000000001055.short
4100  - http://cp.neurology.org/content/early/2021/01/25/CPJ.0000000000001055.full
AB  - 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 1) demonstrated innumerable periventricular, brainstem, and cortical cerebral microhemorrhages (CMH). Scattered, non-specific white matter hyperintensities was 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).