Obstetrics and Gynecology, University of Medicine and Pharmacy of Craiova Faculty of Medicine, Craiova, Romania.
Obstetrics and Gynecology, University of Medicine and Pharmacy of Craiova Faculty of Medicine, Craiova, Romania
BMJ Case Rep. 2020 Oct 8;13(10):e235395. doi: 10.1136/bcr-2020-235395.
Our communication presents a prenatally detected case with severe spinal defect detected in the first trimester of pregnancy, accompanied by a large skin-covered myelomeningocele but normal cranio-cerebral structural appearance.These findings suggest that in the first trimester, the extent of the spinal defect, the cerebrospinal fluid leakage to a large, but skin-covered, meningocele and fixation of the spinal cord at the lesion are not sufficient to determine downward hindbrain displacement and the development of secondary signs for open spina bifida.Therefore, we suggest a careful evaluation of the fetal cerebral features if a meningocele is detected. The presence of the skin covering the lesion may not be evident in the first trimester, but the absence of intracranial open spina bifida markers may indicate a 'closed' spinal defect, which generally associates a good neurological outcome. Also, studies aimed to investigate the accuracy of the intracranial features for open spina bifida detection should consider the possibility of 'closed' myelomeningoceles to avoid incorrect correlations.
我们的交流呈现了一个在妊娠早期检测到的严重脊柱缺陷的病例，伴有大的皮肤覆盖的脊髓脊膜膨出，但颅-脑结构正常。这些发现表明，在妊娠早期，脊柱缺陷的程度、脑脊液向大的、但有皮肤覆盖的脊膜膨出漏出，以及脊髓在病变处的固定程度，不足以确定向下的后脑移位和开放性脊柱裂的继发性征象。因此，如果发现脊膜膨出，我们建议仔细评估胎儿的脑部特征。病变处的皮肤覆盖可能在妊娠早期并不明显，但颅内无开放性脊柱裂的标志物可能表明是“闭合性”脊柱缺陷，通常与良好的神经学结果相关。此外，旨在研究颅内特征对开放性脊柱裂检测准确性的研究，应考虑到“闭合性”脊髓脊膜膨出的可能性，以避免错误的相关性。
