A case of a heterozygous ABCC6 mutation showing recurrent ischemic strokes and intracranial hemorrhages

Abstract

Mutations in the ATP-binding cassette subfamily C member 6 (ABCC6) gene are responsible for pseudoxanthoma elasticum (PXE), which is a rare genetic metabolic disease with autosomal recessive inheritance. 1 Deficiency of the ABCC6 protein leads to ectopic mineralization in skin, eyes, and blood vessels and is an uncommon cause of cerebrovascular disease. 1,2 We report the first Japanese case with the heterozygous ABCC6 mutation displaying recurrent ischemic strokes and intracranial hemorrhages.