Moritoki Yoshinobu, Kojima Yoshiyuki, Kamisawa Hideyuki, Mizuno Kentaro, Kohri Kenjiro, Hayashi Yutaro
Department of Nephro-Urology, Nagoya City University Graduate School of Medical Sciences, Nagoya 467-8601, Japan.
Case Rep Med. 2012;2012:982418. doi: 10.1155/2012/982418. Epub 2012 Jun 12.
Caudal regression syndrome (CRS) is a rare congenital vertebral anomaly, which occurs most often in combination with spinal cord malformations and morphologic dysfunctions of the lower extremities; these signs are useful for both patients and clinicians in the diagnosis of this syndrome. However, in certain cases, clinicians have failed to identify the syndrome due to the lack of apparent anomalies, resulting in the progression of renal dysfunction caused by neuropathic bladder when CRS is eventually identified. Here, we report a case of a 2-year-old girl who was referred to our hospital for vesicoureteral reflux. At examination, she presented no neurological symptoms; however, on cystourethrography and CT scanning we found that the sacral bone was absent, through which CRS was diagnosed. A urodynamic study indicated detrusor-sphincter dyssynergia, and clean intermittent catheterization was initiated. In the present report, we describe a case of CRS with no neurologic symptoms other than a neuropathic bladder. The lack of outward signs can result in delayed diagnosis. Thus, urological examinations, including a urodynamic study, might be the only clue for identifying an underlying neurologic injury involving the lower spinal cord.
尾椎退化综合征（CRS）是一种罕见的先天性脊柱异常，最常与脊髓畸形和下肢形态功能障碍同时出现；这些体征对患者和临床医生诊断该综合征均有帮助。然而，在某些情况下，由于缺乏明显异常，临床医生未能识别该综合征，导致在最终确诊CRS时，神经源性膀胱引起的肾功能障碍已经进展。在此，我们报告一例2岁女童因膀胱输尿管反流转诊至我院。检查时，她没有神经系统症状；然而，在膀胱尿道造影和CT扫描中，我们发现骶骨缺失，据此诊断为CRS。尿动力学研究显示逼尿肌-括约肌协同失调，并开始进行清洁间歇性导尿。在本报告中，我们描述了一例除神经源性膀胱外无其他神经症状的CRS病例。缺乏外在体征可能导致诊断延迟。因此，包括尿动力学研究在内的泌尿外科检查可能是识别涉及下脊髓潜在神经损伤的唯一线索。
