Cerebrovascular diseases extra · 2022
Cerebral Amyloid Angiopathy with Lobar Haemorrhages and CAA-Related Inflammation in an Indian Family.
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Maramattom Boby Varkey
Аннотация
INTRODUCTION: Cerebral amyloid angiopathy (CAA) is a common cause of lobar intracerebral haemorrhage. Sporadic CAA is far more common than hereditary CAA (h-CAA). Familial CAA has not yet been described from India.
CASE REPORT: Two elderly Indian women (a mother and daughter) presented 7 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.
CASE REPORT: Two elderly Indian women (a mother and daughter) presented 7 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.