Department of Neurosurgery, Alder Hey Children's Hospital NHS Trust, Liverpool, United Kingdom,
School of Medicine, University of Liverpool, Liverpool, United Kingdom,
Pediatr Neurosurg. 2020;55(3):175-180. doi: 10.1159/000509327. Epub 2020 Aug 12.
Following the publication of the Management of Myelomeningocele study (MOMS), fetal repair of myelomeningocele (MMC) has become increasingly prevalent worldwide. However, limited case presentations exist illustrating the potential mechanical and embryological effects of fetal repair. We present a unique case report of a complex embryological cervicomedullary junction (CMJ) malformation and cerebellar hypoplasia following fetal repair of MMC.
A 1-day-old female was referred to the paediatric neurosurgical team after having successful surgical intrauterine closure of MMC abroad at 25 weeks gestation. The patient was born by emergency caesarean section at 33 weeks gestation and had a ventricular-peritoneal shunt inserted at 25 days old due to resulting hydrocephalus. Neonatal MRI scans revealed a complex number of malformations that included a split cord located at the CMJ, hypoplasia of the cerebellum and vermis, and a Chiari type II malformation.
It is possible that the clefting of the upper cervical spinal cord was undetected at preoperative MRI; however, this is unlikely given the antenatal images. It is our hypothesis that the malformation may have exhibited mechanical change after the repair, as the preoperative MRI showed only a Chiari II malformation without any of the complex abnormalities being present and the split cord was already there but not obvious. There are no existing reports of such a complex malformation following antenatal surgery in the literature. This should be further explored as more cases and trials become available.
髓膜膨出研究（MOMS）发表后，全球范围内胎儿脊髓脊膜膨出修复术的应用日益增多。然而，目前仅有少量病例报告阐述了胎儿修复术可能产生的机械和胚胎学影响。我们报告了一例复杂的胚胎性颈髓结合部（CMJ）畸形和小脑发育不良的病例，该患者为脊髓脊膜膨出胎儿修复术后。
一名 1 天龄女性在 25 孕周于国外成功接受宫内 MMC 修补术后，被转至儿科神经外科团队。患者于 33 孕周时因早产行急诊剖宫产，出生 25 天时因脑积水行脑室-腹腔分流术。新生儿 MRI 扫描显示存在多种复杂畸形，包括 CMJ 处的脊髓纵裂、小脑和蚓部发育不良，以及 Chiari II 型畸形。
术前 MRI 可能未检测到上颈段脊髓的分裂；但鉴于产前影像，这不太可能。我们推测，该畸形可能在修复后发生了机械性改变，因为术前 MRI 仅显示 Chiari II 型畸形，而没有任何复杂异常，且脊髓纵裂已经存在，但不明显。目前文献中尚无此类产前手术后出现复杂畸形的报道。随着更多病例和试验的出现，这一问题值得进一步探讨。
