부산대학교 도서관

Alpha 1 chain of type IV collagen, which is encoded by COL4A1 gene, expresses in basement membranes of microvessels ubiquitously. Mutations in COL4A1 gene cause microvascular fragility, resulting in cerebrovascular disorders from the fetal to postnatal period, and abnormalities in multiple systems including the eye, kidney, and muscle. While many kinds of abnormalities in brain MRI as represented by porencephaly have been reported, few studies have shown findings in sequential MRIs during the fetal period. We experienced a case of COL4A1 gene abnormality that caused progressive cerebral parenchymal lesion and porencephaly due to cerebrovascular infarction, and cerebellar hypoplasia during fetal period. He also exhibited basal ganglia hemorrhage, hemolytic anemia, small eyes, and cataracts after birth. Progressive cerebral parenchymal lesion could be a clue to suspect COL4A1 mutation even in fetal period. We emphasize the importance of suspecting COL4A1 mutation depending on fetal imaging, considering that intracranial hemorrhage due to delivery has been reported in patients with this genetic condition.