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Caudal regression syndrome

Case contributed by Ammar Haouimi
Diagnosis almost certain

Presentation

Delayed motor milestones with atrophy of the gluteal muscles.

Patient Data

Age: 2 years
Gender: Female
mri

The MRI sequences show a hypoplastic  L5 with complete sacrococcygeal agenesis. The spinal cord terminates at T12-L1 with a wedge-shaped appearance of the conus medullaris. A small centromedullary cystic cavity indicating associated hydromyelia.

Bilateral hypoplasia of the gluteal muscles.

Case Discussion

Caudal regression syndrome (group 1) with associated terminal hydromyelia

The prognosis depends on the vertebromedullary anomalies as well as the associated malformations.

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