Presentation
The patient presented with bladder and bowel incontinence.
Patient Data
On whole MRI screening, the sagittal T2 sequence shows spinal cord ends above the expected level at D12 level, with the truncated end of the spinal cord.
Subtotal sacrococcygeal agenesis was noted as type 2.
The uterus does not visualize the possibility of a Mullerian anomaly.
Overall features suggest caudal regression syndrome type 1.
On scout film, type 2 subtotal sacrococcygeal agenesis was noted.
A neurogenic bladder was also noted.
Case Discussion
Caudal regression syndrome is a rare spinal dysraphism that results from the derailment of primary or secondary neurulation, which leads to a variable range of agenesis or hypoplasia of the sacra-coccygeal bone, with the lower end of the spinal cord ending above the expected level with a truncated wedge-shaped end. It may be associated with a Mullerian anomaly.
Patients usually present with lower back pain and genitourinary abnormalities (bowel/bladder incontinence). In this case, the patient complained of bladder and bowel incontinence as well as a loss of gluteal contour.
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