Intracranial hemorrhage and tortuosity of veins detected on susceptibility-weighted imaging of a child with a type IV collagen α1 mutation and schizencephaly
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- NIWA Tetsu
- Department of Radiology, Tokai University School of Medicine Department of Radiology, Kanagawa Children’s Medical Center
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- AIDA Noriko
- Department of Radiology, Kanagawa Children’s Medical Center
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- OSAKA Hitoshi
- Department of Pediatrics, Jichi Medical School
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- WADA Takahito
- Department of Medical Ethics and Medical Genetics, Kyoto University Graduate School of Medicine
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- SAITSU Hirotomo
- Department of Human Genetics, Yokohama City University Graduate School of Medicine
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- IMAI Yutaka
- Department of Radiology, Tokai University School of Medicine
書誌事項
- タイトル別名
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- Intracranial Hemorrhage and Tortuosity of Veins Detected on Susceptibility-weighted Imaging of a Child with a <i>Type IV Collagen α1</i> Mutation and Schizencephaly
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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.
収録刊行物
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- Magnetic Resonance in Medical Sciences
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Magnetic Resonance in Medical Sciences 14 (3), 223-226, 2015
日本磁気共鳴医学会