Abstract

本文报道联合应用超声和MR产前诊断戊二酸血症Ⅰ型一例。胎儿产前超声检查显示头围偏大。头颅MR表现为脑外间隙增宽，双侧外侧裂池明显增宽，双侧颞叶体积稍小，透明隔囊肿及室管膜下囊肿。胎儿出生后取尿液行代谢病筛查，结果示戊二酸及三羟基戊二酸明显增高，双羧酸增高，提示患儿患有戊二酸血症Ⅰ型。

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