title: Intracranial Hemorrhage and Tortuosity of Veins Detected on Susceptibility-weighted Imaging of a Child with a Type IV Collagen α1 Mutation and Schizencephaly.
abstract: 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.
authors.affiliation: Department of Radiology, Tokai University School of Medicine.
authors.forename: Tetsu
authors.initials: T
authors.lastname: Niwa
authors.forename: Noriko
authors.initials: N
authors.lastname: Aida
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Osaka
authors.forename: Takahito
authors.initials: T
authors.lastname: Wada
authors.forename: Hirotomo
authors.initials: H
authors.lastname: Saitsu
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Imai
mesh_terms: D001921:Brain / Q000098:blood supply* / Q000473:pathology; D024141:Collagen Type IV; D006801:Humans; D007223:Infant; D020300:Intracranial Hemorrhages / Q000150:complications* / Q000473:pathology*; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D009154:Mutation; D065707:Schizencephaly / Q000150:complications*
chemical_list: D024141:Collagen Type IV