# Radiological and clinical aspect of Caudal regression syndrome associated with dorsal hemivertebra without maternal diabetes

## TL;DR

This paper reports a rare case of Caudal Regression Syndrome in a child without maternal diabetes, highlighting its complex symptoms and the need for thorough diagnosis.

## Contribution

The study presents a unique case of CRS associated with a dorsal hemivertebra and no maternal diabetes, adding to the limited understanding of the condition.

## Key findings

- The child exhibited lower limb deficits, abnormal gait, urinary incontinence, and scoliosis.
- MRI revealed a dorsal hemivertebra, renal deformities, and absence of secondary neurulation elements.
- Surgery was delayed, and the child was referred for urological management of kidney deformities.

## 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.