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脊柱裂的非典型变异:病例系列

Atypical Variants of Spinal Dysraphism: A Case Series.

作者信息

Badejo Oluwakemi Aderonke, Shokunbi Matthew Temitayo, Adeolu Augustine Abiodun, Oderinde Idris Olanrewaju, Akinmoladun Janet Adetinuke, Ogbole Godwin Inalegwu

机构信息

Department of Neurological Surgery, University College Hospital, Ibadan, Nigeria.

Division of Neurological Surgery, Department of Surgery, College of Medicine, University of Ibadan, Ibadan, Nigeria.

出版信息

J West Afr Coll Surg. 2025 Jan-Mar;15(1):118-126. doi: 10.4103/jwas.jwas_186_23. Epub 2024 Aug 2.

DOI:10.4103/jwas.jwas_186_23
PMID:39735810
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11676024/
Abstract

The aim of this study is to present and discuss atypical instances of spina bifida (SB) within a Nigerian paediatric cohort, highlighting their distinctive clinicoradiological features. Additionally, a brief literature review is provided to contextualise these congenital anomalies. This series comprises eight rare cases of SB managed in a Nigerian neurosurgical facility. Additionally, a brief literature review is provided to contextualise these congenital anomalies. This case series comprises eight rare cases of SB managed in a Nigerian neurosurgical facility. Amongst these, four cases exhibited segmental spinal dysgenesis (SSD; one thoracolumbar, one lumbar, and two sacral). Each of these cases demonstrated diverse associated musculoskeletal, cutaneous, and perineal anomalies, accompanied by varying degrees of neurological dysfunction. Other cases included lipomyelomeningocele (LMMC), human tail (HT), membranous meningocele, and myeloschisis (MSS). Autonomic dysfunction was a common feature in all of the cases, whilst two of the patients presented with congenital kyphotic spinal deformity. Lower limb anomalies varied, including congenital talipes equinovarus deformity, pes planus, congenital calcaneovagus deformity, rocker bottom feet, clinodactyly, and tetrapolydactyly. Remarkably, none of the patients exhibited clinical features indicative of hydrocephalus. SSD, LMMC, HT, membranous meningocele, and MSS represent atypical forms of SB in the Nigerian paediatric population. Early neuroimaging of patients with suspected spinal dysraphism is crucial, as it may reveal a spectrum of diverse vertebral anomalies associated with this neurological condition within the African population.

摘要

本研究的目的是展示并讨论尼日利亚儿科队列中脊柱裂(SB)的非典型病例,突出其独特的临床放射学特征。此外,还提供了简短的文献综述,以阐明这些先天性异常。该系列包括在尼日利亚神经外科机构治疗的8例罕见的脊柱裂病例。此外,还提供了简短的文献综述,以阐明这些先天性异常。这个病例系列包括在尼日利亚神经外科机构治疗的8例罕见的脊柱裂病例。其中,4例表现为节段性脊柱发育不全(SSD;1例胸腰段、1例腰段和2例骶段)。这些病例均表现出各种相关的肌肉骨骼、皮肤和会阴异常,并伴有不同程度的神经功能障碍。其他病例包括脂肪脊髓脊膜膨出(LMMC)、人尾(HT)、膜性脑脊膜膨出和脊髓裂(MSS)。自主神经功能障碍是所有病例的共同特征,同时有2例患者出现先天性脊柱后凸畸形。下肢异常各不相同,包括先天性马蹄内翻足畸形、扁平足、先天性跟骨外翻畸形、摇椅底足、手指弯曲和多指畸形。值得注意的是,所有患者均未表现出脑积水的临床特征。SSD、LMMC、HT、膜性脑脊膜膨出和MSS代表了尼日利亚儿科人群中脊柱裂的非典型形式。对疑似脊柱裂患者进行早期神经影像学检查至关重要,因为它可能揭示非洲人群中与这种神经疾病相关的一系列不同的椎体异常。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/30d4/11676024/8d440326216d/JWACS-15-118-g008.jpg
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Global prevalence of congenital anencephaly: a comprehensive systematic review and meta-analysis.
全球先天性无脑畸形的患病率:一项全面的系统评价和荟萃分析。
Reprod Health. 2022 Oct 17;19(1):201. doi: 10.1186/s12978-022-01509-4.
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Birth prevalence of neural tube defects in eastern Africa: a systematic review and meta-analysis.东非神经管缺陷的出生患病率:系统评价和荟萃分析。
BMC Neurol. 2022 Jun 1;22(1):202. doi: 10.1186/s12883-022-02697-z.
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Tethered Cord Syndrome Associated With Lumbar Lipomyelomeningocele: A Case Report.与腰骶部脂肪脊髓脊膜膨出相关的脊髓栓系综合征:一例报告
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Experience with human tail and its outcome.人类尾巴的相关经历及其结果。
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