From the Charité - Universitätsmedizin Berlin, Institute of Cellbiology and Neurobiology, Berlin, Germany.
Charité - Universitätsmedizin Berlin, Institute of Pathology, Berlin, Germany.
J Neuropathol Exp Neurol. 2021 Mar 22;80(4):294-305. doi: 10.1093/jnen/nlab007.
Spina bifida (SB) is an umbrella term for multiple conditions characterized by misclosure of vertebral arches. Neuropathologic findings in SB cases are often reported with imprecise and overlapping terminology. In view of the increasing identification of SB-associated genes and pathomechanisms, the precise description of SB subtypes is highly important. In particular, the term "myelomeningocele" is applied to various and divergent SB subtypes. We reevaluated 90 cases with SB (58 prenatal; 32 postnatal). The most frequent SB phenotype in our cohort was myeloschisis, which is characterized by an open neural plate with exposed ependyma (n = 28; 31.1%). An open neural plate was initially described in only in two-thirds of the myeloschisis cases. An additional 21 cases (23.3%) had myelomeningocele; 2 cases (2.2%) had a meningocele; and 21 cases (23.3%) had an unspecified SB aperta (SBA) subtype. Overall, the SB phenotype was corrected in about one-third of the cases. Our findings highlight that "myelomeningocele" and "SB aperta" cannot be used as synonymous terms and that myeloschisis is an underreported SB phenotype. Based on our findings and a review of literature we propose a classification of SB subtypes in SB occulta and the 3 SBA subtypes, meningocele, myelomeningocele, and myeloschisis.
脊柱裂（SB）是一组多种疾病的统称，其特征为椎弓根融合不全。 SB 病例的神经病理学发现常伴有不精确和重叠的术语。鉴于 SB 相关基因和发病机制的不断确定，对 SB 亚型进行精确描述非常重要。特别是，“脊髓脊膜膨出”一词适用于各种不同的 SB 亚型。我们重新评估了 90 例 SB 病例（58 例产前；32 例产后）。我们队列中最常见的 SB 表型是脊髓脊膜膨出，其特征是神经板开放，软脑膜暴露（n=28；31.1%）。最初仅在三分之二的脊髓脊膜膨出病例中描述了开放的神经板。另外还有 21 例（23.3%）患有脊髓脊膜膨出；2 例（2.2%）患有脑膜膨出；21 例（23.3%）患有未特指的 SB 开放性（SBA）亚型。总体而言，约三分之一的病例中 SB 表型得到纠正。我们的研究结果表明，“脊髓脊膜膨出”和“SBA”不能作为同义词使用，脊髓脊膜膨出是一种报道较少的 SB 表型。根据我们的研究结果和文献回顾，我们建议将 SB 隐匿型中的 SB 亚型和 3 种 SBA 亚型（脑膜膨出、脊髓脊膜膨出和脊髓脊膜膨出）进行分类。
