PDF(Pubmed)
Abstract：
Caudal regression syndrome (CRS) is a rare genetic disorder affecting less than 0.1%-0.5% of newborns that manifests as the total or partial absence of lower vertebral structures including the sacral spine. The etiology of CRS remains elusive, but there is compelling evidence supporting a genetic predisposition and a correlation with maternal diabetes. This study presents the case of a 7-year-old girl exhibiting symptoms consistent with CRS including lower limb deficits, abnormal gait, urinary incontinence, and scoliosis. The findings from an MRI scan revealed notable anomalies such as hemivertebra in the dorsal spine, renal deformities, and the absence of secondary neurulation elements in the spine. We chose to delay the hemivertebra surgery because the scoliosis was not highly pronounced. Rather, we directed the child to the urology department for the management of her kidney deformities. This case contributes to the understanding of CRS and underscores the importance of comprehensive diagnostic approaches in elucidating its complex manifestations.
摘要：
尾骨回归综合征（CRS）是一种罕见的遗传性疾病，影响不到0.1％-0.5％的新生儿，表现为完全或部分缺乏包括骶骨脊柱在内的下部椎骨结构。CRS的病因仍然难以捉摸，但是有令人信服的证据支持遗传易感性和与母亲糖尿病的相关性。这项研究提出了一个7岁的女孩表现出与CRS一致的症状，包括下肢缺陷，步态异常,尿失禁,和脊柱侧弯.MRI扫描的发现显示出明显的异常，例如背侧脊柱的半椎骨，肾畸形,脊柱中没有二次神经形成元素。我们选择推迟半椎骨手术，因为脊柱侧弯并不明显。相反，我们把孩子送到泌尿科治疗她的肾脏畸形。这种情况有助于理解CRS，并强调了全面诊断方法在阐明其复杂表现方面的重要性。
