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: Tetsu Niwa, Noriko Aida, Hitoshi Osaka, Takahito Wada, Hirotomo Saitsu, Yutaka Imai
• Journal: Magnetic resonance in medical sciences : MRMS : an official journal of Japan Society of Magnetic Resonance in Medicine (Magn Reson Med Sci) Vol. 14 Issue 3 Pg. 223-6 ( 2015) ISSN: 1880-2206 [Electronic] Japan
• PMID: 25500781 (Publication Type: Case Reports, Journal Article)

Chemical References

• Collagen Type IV

Topics

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