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一名六岁儿童罕见地同时出现腰肋椎综合征和先天性腰椎疝。

A Rare Co-occurrence of Lumbo-Costo-Vertebral Syndrome With Congenital Lumbar Hernia in a Six-Year-Old Child.

作者信息

Dhabalia Rishabh, Kashikar Shivali V, Parihar Pratapsingh, Mishra Komal, Yadav Riya, Bothara Shivani S

机构信息

Radiodiagnosis, Datta Meghe Institute of Higher Education & Research, Wardha, IND.

出版信息

Cureus. 2024 Jul 24;16(7):e65308. doi: 10.7759/cureus.65308. eCollection 2024 Jul.

Abstract

Lumbo-costo-vertebral syndrome (LCVS) is a very rare congenital disorder seen in children. It is characterized by a congenital absence of ribs, vertebral anomalies, scoliosis, meningocele, and hypoplastic abdominal wall muscles presenting as abdominal wall hernia. We present a case of a six-year-old Indian female who came with complaints of swelling in the left lumbar region since birth, which was evident in coughing and scoliosis. On auscultation, bowel sounds were heard over the swelling. Physical examination revealed a left lumbar hernia and scoliosis. Abdominal X-rays revealed the absence of the 12th rib on the left side and vertebral anomalies with kyphoscoliosis. Abdominal ultrasonography (USG) showed a left lumbar hernia with bowel loops as its content. Computed tomography (CT) was done, which confirmed the X-ray and USG findings. Based on clinical and radiological findings, a diagnosis of LCVS associated with congenital lumbar hernia (CLH) was made. The patient was then referred to the surgery department for further management. This case illustrates a unique link between two extremely rare conditions and emphasizes the necessity of thorough clinical and radiological evaluation in suspected patients for early diagnosis and treatment.

摘要

腰肋椎综合征(LCVS)是一种在儿童中极为罕见的先天性疾病。其特征为先天性肋骨缺失、椎体异常、脊柱侧弯、脑脊膜膨出以及发育不全的腹壁肌肉,表现为腹壁疝。我们报告一例6岁印度女性病例,该患者自出生以来就有左腰区肿胀的主诉,咳嗽和脊柱侧弯时更为明显。听诊时,在肿胀处可闻及肠鸣音。体格检查发现左侧腰疝和脊柱侧弯。腹部X线显示左侧第12肋缺失以及椎体异常伴脊柱后凸侧弯。腹部超声(USG)显示左侧腰疝,疝内容物为肠袢。进行了计算机断层扫描(CT),证实了X线和USG的检查结果。根据临床和影像学检查结果,诊断为与先天性腰疝(CLH)相关的LCVS。随后该患者被转诊至外科进行进一步治疗。本病例说明了两种极为罕见疾病之间的独特联系,并强调了对疑似患者进行全面临床和影像学评估以实现早期诊断和治疗的必要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1eea/11343726/90a89432c521/cureus-0016-00000065308-i01.jpg

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