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一种隐匿性畸形:一名患有尿失禁男孩的闭合性脊柱裂。

A silent malformation: Closed spinal dysraphism in a boy with urinary incontinence.

作者信息

Gaur Shubhi, Parihar Pratap Singh, Mishra Gaurav Vedprakash, Desale Prasad Sanjay

机构信息

Department of Radiodiagnosis, Datta Meghe Institute of Medical Sciences, Wardha, Maharashtra, India 44200.

出版信息

Radiol Case Rep. 2025 Mar 20;20(6):2850-2854. doi: 10.1016/j.radcr.2025.02.082. eCollection 2025 Jun.

DOI:10.1016/j.radcr.2025.02.082
PMID:40201051
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11978291/
Abstract

Spinal dysraphisms (SDs) are characterized by a heterogeneous range of congenital spinal anomalies  that arise from derivative disturbances in neural tube development. Closed spinal dysraphism, a variant, is less common and typically has a subtle clinical presentation. Timely and correct diagnosis is essential to avert chronic complications. We describe a 12-year-old boy who presented with progressively worsening bladder and bowel incontinence since early childhood. On clinical examination, he was found to have swelling of the sacral region, gross motor impairment, and a slim physique. MRI showed hydro/syringomyelia, tethered cord, lipomeningocele, spina bifida in the sacral region, chronic cystitis and dural ectasia. These test results were consistent with the diagnosis of closed spinal dysraphism. This case highlights the need to consider urinary incontinence and sacral anomalies as manifestations of closed spinal dysraphism. Neuroimaging plays a key role in diagnosis, and especially MRI is the gold standard in detecting detailed structural abnormalities. To improve patient outcomes and quality of life, this paper emphasizes the intricacy of closed spinal dysraphism and the necessity of multidisciplinary management and early intervention.

摘要

脊柱裂(SDs)的特征是一系列由神经管发育衍生干扰引起的先天性脊柱异常。闭合性脊柱裂是一种变体,较为少见,通常临床表现不明显。及时、正确的诊断对于避免慢性并发症至关重要。我们描述了一名12岁男孩,自幼年起就出现膀胱和肠道失禁且逐渐加重。临床检查发现,他骶部肿胀、存在严重运动功能障碍且体型消瘦。磁共振成像(MRI)显示有脊髓空洞症/脊髓积水、脊髓栓系、脂肪瘤型脊膜膨出、骶部脊柱裂、慢性膀胱炎和硬脊膜扩张。这些检查结果与闭合性脊柱裂的诊断相符。该病例凸显了将尿失禁和骶部异常视为闭合性脊柱裂表现的必要性。神经影像学在诊断中起关键作用,尤其是MRI是检测详细结构异常的金标准。为改善患者预后和生活质量,本文强调了闭合性脊柱裂的复杂性以及多学科管理和早期干预的必要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9f84/11978291/5088e8be4277/gr5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9f84/11978291/011170193d68/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9f84/11978291/e3f801cc4a64/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9f84/11978291/540ef39f2053/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9f84/11978291/291cf41fec95/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9f84/11978291/5088e8be4277/gr5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9f84/11978291/011170193d68/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9f84/11978291/e3f801cc4a64/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9f84/11978291/540ef39f2053/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9f84/11978291/291cf41fec95/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9f84/11978291/5088e8be4277/gr5.jpg

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