Kang Seongyeon, Park Heewon, Hong Jeana
Department of Pediatrics, Kangwon National University Hospital, Chuncheon, Korea.
Department of Rehabilitation, Kangwon National University School of Medicine, Chuncheon, Korea.
Pediatr Gastroenterol Hepatol Nutr. 2021 Mar;24(2):238-243. doi: 10.5223/pghn.2021.24.2.238. Epub 2021 Mar 4.
Caudal regression syndrome (CRS) is a rare neural tube defect that affects the terminal spinal segment, manifesting as neurological deficits and structural anomalies in the lower body. We report a case of a 31-month-old boy presenting with constipation who had long been considered to have functional constipation but was finally confirmed to have CRS. Small, flat buttocks with bilateral buttock dimples and a short intergluteal cleft were identified on close examination. Plain radiographs of the abdomen, retrospectively reviewed, revealed the absence of the distal sacrum and the coccyx. During the 5-year follow-up period, we could find his long-term clinical course showing bowel and bladder dysfunction without progressive neurologic deficits. We present this case to highlight the fact that a precise physical examination, along with a close evaluation of plain radiographs encompassing the sacrum, is necessary with a strong suspicion of spinal dysraphism when confronting a child with chronic constipation despite the absence of neurologic deficits or gross structural anomalies.
尾椎退化综合征（CRS）是一种罕见的神经管缺陷，影响脊髓末端节段，表现为下半身的神经功能缺损和结构异常。我们报告一例31个月大的男孩，他长期以来一直被认为患有功能性便秘，但最终确诊为CRS。仔细检查发现其臀部小而扁平，双侧臀部有酒窝，臀间裂短。回顾性分析腹部平片，发现远端骶骨和尾骨缺失。在5年的随访期内，我们发现他的长期临床病程显示有肠道和膀胱功能障碍，但无进行性神经功能缺损。我们展示此病例以强调，当面对一名患有慢性便秘但无神经功能缺损或明显结构异常的儿童时，若高度怀疑脊柱裂，进行精确的体格检查以及对包括骶骨在内的平片进行仔细评估是必要的。
