Cerebral Amyloid Angiopathy with Lobar Hemorrhages and CAA-Related Inflammation [CAA-RI] in an Indian Family
Cerebrovascular Diseases Extra
Abstract
Introduction; Cerebral amyloid angiopathy (CAA) is a common cause of lobar intracerebral hemorrhage [ICH]. Sporadic CAA is far more common than hereditary CAA [h-CAA]. Familial cerebral amyloid angiopathy has not yet been described from India. Case report; Two elderly Indian women (a mother and daughter) presented seven years apart with features of CAA. The mother had presented with features of CAA-related inflammation that responded to steroids, whereas the daughter presented with features of CAA-related intracerebral haemorrhage. Clinical exome testing did not reveal any known genetic variants associated with h-CAA. Discussion; Although clinical exome testing was inconclusive, the presentation of CAA in two generations (mother and daughter) in their 8th and 7th decades respectively raises the possibility of a familial CAA rather than a sporadic CAA in this Indian family. Genome wide association studies are necessary to reveal if an Indian variant of familial CAA exists. We compare and contrast our familial CAA with the described h-CAA variants in the literature.
The Author(s). Published by S. Karger AG, Basel
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