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Caudal regression syndrome

Case contributed by Ammar Haouimi
Diagnosis certain

Presentation

Urinary incontinence. Had surgery at the lumbar region (report not available).

Patient Data

Age: 7 years
Gender: Female
mri

The spinal cord terminates at the L1 level with a wedge-shaped appearance of the conus medullaris (or cigar-shaped conus medullaris). A small intramedullary cystic cavity is noted in keeping with an associated hydromyelia. Hypoplastic S1 with agenesis of the rest of the sacral vertebrae and coccyx.

Normal appearance of both hips and kidneys on the coronal T2 sequence.
 

Case Discussion

The MRI findings are consistent with caudal regression syndrome (group I) with associated hydromyelia.

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