Sacral Agenesis: Late Presentation and the Psychological Impact of Delayed Diagnosis

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.