Kumar Neetu, Chatur Chinky, Balani Ankit, Bisharat May, Tahir Zubair, Johal Navroop, Sudhakar Sniya, Cuckow Peter, Thompson Dominic N P, Mankad Kshitij
Departments of1Pediatric Urology.
2Radiology, and.
J Neurosurg Pediatr. 2021 Jun 4;28(2):236-243. doi: 10.3171/2021.1.PEDS20648. Print 2021 Aug 1.
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磁共振成像（MRI）评估一组泄殖腔外翻（CEX）患儿脊柱裂的患病率和谱系。
纳入1999年至2019年间接受基线脊柱MRI检查的CEX患儿。对图像进行共识性审查以评估脊柱裂的类型。最初根据描述性解剖结构对脊柱裂进行审查和描述，然后根据原肠胚形成、原发性神经管形成或继发性神经管形成的异常进行分类。
纳入34名儿童。其中33名儿童患有闭合性脊柱裂，1名儿童脊柱正常。在33例闭合性脊柱裂病例中，所有病例均累及圆锥和/或终丝。最常见的畸形是脊髓脂肪瘤（n = 20）和终末脊髓脊膜膨出（n = 11）。脂肪瘤具有异质性：4例为背侧型，9例为过渡型，4例为紊乱型，3例为终末型。脂肪瘤中有一大部分（10/20，50%）具有不连续双脂肪瘤的异常形态，近端脂肪与圆锥相关，远端脂肪位于终丝内。使用现有分类难以对其进行特征描述。2例中仅发现终丝增粗。这些畸形中的大多数与继发性神经管形成障碍相符。
复杂的脊柱裂与CEX始终相关。在这组患者中发现的异常脊柱裂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检查。所观察到的畸形类型和分布对更广泛地理解腰骶部脂肪瘤的发病机制和分类有重要意义。
