Caudal regression syndrome

Presentation

Urinary incontinence and lower limb weakness.

Patient Data

Age: 6
Gender: Female
x_ray

Absent S5 and coccyx. No hip dislocations seen.

ultrasound

Bladder shows increase in longitudinal diameter.

Both kidneys shows parenchymal thinning and a severe dilated pelvicalyceal system with dilated ureters through its whole course.

mri

Partial agenesis of sacral vertebrae and posterior elements from S5 to coccyx, there is a continuity of the sacral epidural space fat with pelvic fat. Abnormally high termination of the spinal cord at the T12-L1 vertebral body level with a typical blunted, wedge-shaped conus.
In addition, severe dilated ureters along their length and the bladder shows increase in longitudinal diameter.

Case Discussion

According to Estin et al, Caudal regression syndrome is a rare congenital anomaly resulting from an insulte to the structures derived from the caudal eminence. Characterized by caudal musculoskeletal compromise, it can be associated to neurological, gastrointestinal, renal and genitourinary defects.

MR imaging is the diagnostic modality of choice where whe can find vertebral body dysgenesis/hypogenesis and abnormal distal spinal cord.

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