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与骶骨发育不全、低位脊髓、脂肪脊髓脊膜膨出和脊髓纵裂畸形相关的Klippel-Feil综合征伴脊髓栓系综合征:神经管缺陷五联征沿整个脊柱轴分布。

Klippel-Feil Syndrome Associated with Sacral Agenesis, Low Lying Cord, Lipomyelomeningocele and Split Cord Malformation Presenting with Tethered Cord Syndrome: Pentads Neural Tube Defects Spread along Whole Spinal Axis.

作者信息

Satyarthee Guru Dutta, Kumar Amandeep

机构信息

Department of Neurosurgery, Neurosciences Centre, All India Institute of Medical Sciences, New Delhi, India.

出版信息

J Pediatr Neurosci. 2017 Jan-Mar;12(1):51-54. doi: 10.4103/1817-1745.205651.

Abstract

Neural tube defects are congenital development anomaly of the central nervous system and usually have relatively more predilection to affect at anterior and posterior neuropore embryological development sites, so usually one or two defects are commonly encountered. However, occurrence of simultaneous multiple neural tube defects is very rare, presence of constellation of five neural defects is extremely rare, and all defects add up together to produce gross neurological deficit. We present an interesting case of a 23-year-old male who presented with history of lower backache and noticed wasting and weakness of lower limbs associated with difficulty in walking for the last 2 years but had no associated sphincter disturbances. He was operated for lumbosacral lipomeningocoele repair at the age of 1 year. He was asymptomatic, following the first surgical intervention. At the current admission, he underwent re-exploration of surgical wound with surgical repair although suffered mild-temporary neurological worsening in the immediate postoperative period. Imaging feature and management of such rare constellation of five embryological anomalies and its significance and brief literature are discussed.

摘要

神经管缺陷是中枢神经系统的先天性发育异常,通常相对更倾向于影响神经孔前后的胚胎发育部位,所以通常会遇到一两个缺陷。然而,同时出现多个神经管缺陷的情况非常罕见,出现五个神经缺陷的组合极为罕见,所有这些缺陷加在一起会导致严重的神经功能缺损。我们报告了一例有趣的病例,一名23岁男性,有下背部疼痛病史,在过去2年中出现下肢肌肉萎缩和无力,并伴有行走困难,但无括约肌功能障碍。他1岁时接受了腰骶部脂肪瘤性脊膜膨出修补手术。首次手术干预后他无症状。在本次入院时,他接受了手术伤口的再次探查和手术修复,尽管术后立即出现了轻度的暂时性神经功能恶化。本文讨论了这种罕见的五个胚胎异常组合的影像学特征、治疗及其意义,并简要回顾了相关文献。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8c4f/5437790/20042d8187c1/JPN-12-51-g001.jpg

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