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Caudal regression syndrome

Case contributed by Ashutosh Gandhi
Diagnosis certain

Presentation

Bladder and bowel dysfunction.

Patient Data

Age: Young child
Gender: Male
mri

Myelogram and MRI demonstrate abnormally high termination of the spinal cord (at the superior aspect of L1) with a blunted wedge-shaped appearance of the conus. Prominence of the central canal is present within the mid-lower thoracic spine. There is dysgenesis of the sacrum, which appears truncated.

Case Discussion

Caudal regression syndrome is rare but has fairly characteristic imaging features. 

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