PDF(Pubmed)
Abstract：
Sacral agenesis (SA) is a rare condition characterized by the absence of one or more lower sacral vertebral bodies. In India, children with this condition often present late with symptoms primarily related to urinary and bowel dysfunction. Maternal diabetes is the only confirmed risk factor, significantly elevating the incidence rate. We discuss a case of a nine-year-old female who presented to the pediatric outpatient department (OPD) with chronic constipation and urinary retention, having experienced symptoms since infancy. Initial investigations at peripheral hospitals had yielded no clear diagnosis, leading to undue psychological distress to the child and family. The child had been born to a mother with diabetes mellitus during pregnancy. Physical examination revealed mild dehydration, anemia, and sacral dimpling. Further evaluation showed renal injury and SA confirmed by MRI, along with other associated findings. This case report highlights the importance of early diagnosis and intervention in pediatric SA, especially given the risk of renal disease progression. The treatment in this case included clean intermittent self-catheterization (CIC), dietary management, and counseling on renal health. Crucially, uncovering the root cause provided immense psychological relief to the child and her family. Pediatric SA remains a diagnostic challenge, often leading to psychological distress in affected individuals who present late. Early recognition and comprehensive management are crucial, especially in cases associated with maternal diabetes, to mitigate the risk of renal complications and improve the overall quality of life for affected children.
摘要：
骶骨发育不全（SA）是一种罕见的疾病，其特征是缺乏一个或多个下骶骨椎体。在印度,患有这种疾病的儿童通常晚期出现主要与泌尿和肠道功能障碍有关的症状。母亲糖尿病是唯一被证实的危险因素,显着提高发病率。我们讨论了一个9岁的女性，她因慢性便秘和尿潴留出现在儿科门诊部（OPD），从婴儿期就有过症状.外围医院的初步调查没有得到明确诊断，给孩子和家庭造成不必要的心理困扰。这个孩子是怀孕期间患有糖尿病的母亲所生的。体格检查显示轻度脱水,贫血,和骶骨凹陷。进一步评估显示肾损伤和SA经MRI证实，以及其他相关发现。该病例报告强调了早期诊断和干预小儿SA的重要性。特别是考虑到肾脏疾病进展的风险。在这种情况下，治疗包括清洁间歇性自导管插入术（CIC），饮食管理，和肾脏健康咨询。至关重要的是，找出根本原因为孩子和她的家人提供了巨大的心理救济。儿科SA仍然是一个诊断挑战，经常导致迟到的受影响个体的心理困扰。及早认识,综合治理至关重要,尤其是在与母亲糖尿病相关的病例中，降低肾脏并发症的风险，提高受影响儿童的整体生活质量。
