Intracranial Hemorrhage and Tortuosity of Veins Detected on Susceptibility-weighted Imaging of a Child with a Type IV Collagen α1 Mutation and Schizencephaly.

Abstract excerpt

Type IV collagen α1 (COL4A1) forms a sheet-like network beneath the endothelium and surrounding smooth muscle cells. Associations of mutations in COL4A1 with porencephaly, schizencephaly, and intracranial hemorrhages are known. We report susceptibility-weighted imaging (SWI) findings showing hemorrhages in the peripheral portion of the region of schizencephaly, intraparenchymal hemorrhages, and tortuosity of the...

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