RT Journal Article
SR Electronic
T1 Familial Cerebral Cavernous Malformation Mimicking Cerebral Amyloid Angiopathy
JF Neurology: Clinical Practice
FD Lippincott Williams & Wilkins
SP 10.1212/CPJ.0000000000001055
DO 10.1212/CPJ.0000000000001055
A1 Ridha, Mohamed
A1 Aziz, Yasmin
A1 Broderick, Joseph
YR 2021
UL http://cp.neurology.org/content/early/2021/01/25/CPJ.0000000000001055.abstract
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).