The objective of this study was to assess the prevalence and spectrum of spinal dysraphism in a cohort of children with cloacal exstrophy (CEX) using MRI.

Children with CEX presenting between 1999 and 2019 with baseline spinal MRI were included. The images were reviewed in consensus to assess the type of dysraphism. The dysraphisms were initially reviewed and described based on their descriptive anatomy, and then classified according to anomalies of gastrulation, primary neurulation, or secondary neurulation.

Thirty-four children were included. Thirty-three of these children had closed spinal dysraphism, and 1 had a normal spine. Of the 33 cases of closed spinal dysraphism, the conus and/or filum terminale were involved in all cases. The most common malformations were spinal lipoma (n = 20) and terminal myelocystocele (n = 11). The lipomas were heterogeneous: 4 dorsal, 9 transitional, 4 chaotic, and 3 terminal. A large subgroup (10/20, 50%) within the lipomas had an unusual morphology of noncontiguous double lipomas, the proximal fat related to the conus and the distal fat within the filum. These were difficult to characterize using existing classifications. In 2 cases, only a thickened filum was noted. The majority of these malformations were compatible with a disorder of secondary neurulation.

Complex spinal dysraphisms are consistently associated with CEX. The unusual dysraphism patterns found in this group of patients highlight the limitations of current embryological classifications. Given the propensity for neurological deterioration in this group of patients, spinal MRI should be routinely performed. The type and distribution of malformations seen have implications for the wider understanding of the pathogenesis and classification of lumbosacral lipomas.

本研究的目的是使用 MRI 评估一组泄殖腔外翻 (CEX) 儿童脊柱畸形的患病率和范围。

包括 1999 年至 2019 年间具有基线脊柱 MRI 的 CEX 儿童。图像被一致审查以评估拼写障碍的类型。最初根据描述性解剖结构审查和描述了畸形，然后根据原肠形成、原发性神经形成或继发性神经形成的异常进行分类。

包括三十四名儿童。其中 33 名儿童患有闭合性脊柱闭合不全，1 名儿童脊柱正常。在 33 例闭合性脊柱闭合不全的病例中，所有病例均涉及圆锥和/或终丝。最常见的畸形是脊柱脂肪瘤（n = 20）和终末期骨髓囊肿（n = 11）。脂肪瘤是异质的：4 个背侧、9 个过渡性、4 个混沌和 3 个末端。脂肪瘤内的一个大亚组 (10/20, 50%) 具有不连续的双脂肪瘤的异常形态，近端脂肪与圆锥相关，远端脂肪在丝内。这些很难用现有的分类来表征。在 2 例中，仅注意到增厚的丝。大多数这些畸形与继发性神经形成障碍相容。

复杂的脊柱畸形始终与 CEX 相关。在这组患者中发现的不寻常的畸形模式突出了当前胚胎学分类的局限性。鉴于这组患者有神经功能恶化的倾向，应常规进行脊柱 MRI。所见畸形的类型和分布对于更广泛地了解腰骶部脂肪瘤的发病机制和分类具有重要意义。