Fetal acrania: A case report

IF 0.3 Q3 MEDICINE, GENERAL & INTERNAL
V. Bartoš, Oľga Káčeríková
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引用次数: 0

Abstract

Introduction. Acrania is a very rare lethal congenital malformation characterized by an absence of the cranial vault with developed cerebral hemispheres. It is sometimes confused with anencephaly in which both the forebrain and neurocranium are not developed. Although these two conditions principally differ in their morphology and pathogenesis, acrania may be a precursor of the development of anencephaly through the process known as Acrania-exencephaly-anencephaly sequence. Case report. A 27-year-old woman was diagnosed to have a viable fetus with an absent skull vault and uncovered brain directly exposed to amniotic cavity. A diagnosis of acrania was made. A medical abortion was performed in the 14th week of pregnancy. A gross examination of the formalin-fixed fetus revealed a complete absence of the calva and brain tissue. The cranial structures stop abruptly above the orbits and the fetus showed a triangular face with bulging eyes. At the top of the head, a huge defect with a residual thin covering membrane was visible. According to the gross morphology and in correlation with previous ultrasound findings, the pathologist established the diagnosis of secondary anencephaly. Conclusion. This paper suggests that many of the reported anencephaly cases that are diagnosed during the second or third trimester of pregnancy might represent the end of a spectrum that initially appears as isolated acrania. This may be the reason for much higher global incidence of anencephaly compared to acrania.
胎儿颅骨畸形1例
介绍。颅骨畸形是一种非常罕见的致死性先天性畸形,其特征是颅骨拱顶缺失,大脑半球发达。它有时与前脑和神经头盖骨未发育的无脑畸形相混淆。虽然这两种情况在形态和发病机制上主要不同,但通过被称为“crania-exencephaly-anencephaly序列”的过程,crania可能是无脑畸形发展的前兆。病例报告。一名27岁的女性被诊断为有一个可存活的胎儿,颅骨穹窿缺失,大脑裸露,直接暴露在羊膜腔内。诊断为颅脑畸形。妊娠第14周进行药物流产。对福尔马林固定的胎儿的粗略检查显示完全没有颅骨和脑组织。颅骨结构在眼眶上方突然停止,胎儿的脸呈三角形,眼睛凸出。在头部的顶部,可以看到一个巨大的缺陷和残留的薄覆盖膜。根据大体形态和先前超声检查结果,病理学家确定继发性无脑畸形的诊断。结论。这篇论文表明,许多报道的无脑畸形病例在怀孕的第二或第三个月被诊断出来,可能代表了一个谱系的结束,最初表现为孤立的crania。这可能是全球无脑畸形发生率高于颅骨畸形的原因。
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来源期刊
Acta Facultatis Medicae Naissensis
Acta Facultatis Medicae Naissensis MEDICINE, GENERAL & INTERNAL-
CiteScore
0.70
自引率
0.00%
发文量
13
审稿时长
12 weeks
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