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

抄録

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 intracranial veins in a child with a COL4A1 mutation. SWI findings may be helpful for understanding the possible relationship between schizencephaly and COL4A1 mutations.