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一名患有膈疝、无眼畸形和心脏缺陷的婴儿:磁共振成像尸检评估

An infant with diaphragmatic hernia, anophthalmia and cardiac defect: evaluation by magnetic resonance imaging autopsy.

作者信息

Ceylaner S, Gozer H E, Ceylaner G, Ertas I E, Kizilates S U, Edguer T

机构信息

Department of Genetics, Zekai Tahir Burak Women's Health Education and Research Hospital, 06230 Ankara, Turkey.

出版信息

Genet Couns. 2006;17(2):231-6.

Abstract

We present an infant with diaphragmatic hernia, anophthalmia and cardiac defect evaluated by magnetic resonance imaging (MRI) autopsy. This female infant was born at 39th weeks by vaginal delivery and presented with diaphragmatic hernia, anophthalmia, cardiac defect and died due to respiratory problems at 28th hours of life. MRI autopsy showed internal organ abnormalities including congenital hernia of the left diaphragm, secondary hypoplasia of the left lung, atrial and ventricular septal defect, dilatation of calices of the kidneys, bilateral anophthalmia, hypoplasia of the optic nerves, hyperintensity of pituitary gland possibly due to bleeding and a cyst of the septum pellucidum. This article shows that MRI autopsy is a valuable method for the evaluation of cases with congenital anomalies if autopsy is not possible.

摘要

我们报告一例通过磁共振成像(MRI)尸检评估的患有膈疝、无眼畸形和心脏缺陷的婴儿。这名女婴在孕39周时经阴道分娩出生,患有膈疝、无眼畸形、心脏缺陷,并在出生后28小时因呼吸问题死亡。MRI尸检显示内部器官存在异常,包括左侧膈肌先天性疝、左肺继发性发育不全、房间隔和室间隔缺损、肾盏扩张、双侧无眼畸形、视神经发育不全、垂体可能因出血而出现高信号以及透明隔囊肿。本文表明,如果无法进行尸检,MRI尸检是评估先天性异常病例的一种有价值的方法。

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