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

Magn Reson Med Sci. 2015;14(3):223-6. doi: 10.2463/mrms.2014-0060. Epub 2014 Dec 15.

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.

Publication types

  • Case Reports

MeSH terms

  • Brain / blood supply*
  • Brain / pathology
  • Collagen Type IV
  • Humans
  • Infant
  • Intracranial Hemorrhages / complications*
  • Intracranial Hemorrhages / pathology*
  • Magnetic Resonance Imaging / methods*
  • Male
  • Mutation
  • Schizencephaly / complications*

Substances

  • Collagen Type IV