Department of Obstetrics and Gynecology, Graduate School of Medical Science, Kyushu University, Fukuoka, Japan. tunematu @ med.kyushu-u.ac.jp
Fetal Diagn Ther. 2011;29(3):248-52. doi: 10.1159/000322403. Epub 2010 Dec 16.
An abdominal aortic aneurysm is a rare disease in the paediatric population and is mainly caused by intrauterine infection, connective tissue diseases, such as Ehlers-Danlos syndrome and Marfan's syndrome, and iatrogenic trauma due to umbilical artery catheterization. Although several cases have been reported in the English literature, they were rarely diagnosed prenatally. Vascular obstruction in utero is also believed to be the major cause of porencephaly. Recently, gene mutations have been reported as the cause of both the above-mentioned diseases. We present a prenatally diagnosed case of congenital abdominal aortic aneurysm with porencephaly.
小儿腹主动脉瘤是一种罕见疾病，主要由宫内感染、结缔组织疾病（如埃勒斯-当洛斯综合征和马凡综合征）以及因脐动脉导管插入术导致的医源性创伤引起。尽管在英文文献中有几例报道，但很少能在产前诊断出来。子宫内血管阻塞也被认为是脑裂畸形的主要原因。最近，基因突变为上述两种疾病的病因提供了新的认识。我们报告了一例产前诊断为先天性腹主动脉瘤合并脑裂畸形的病例。
