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Caudal regression syndrome - type 1

Case contributed by Utkarsh Kabra
Diagnosis almost certain

Presentation

Urinary incontinence

Patient Data

Age: 8 years
Gender: Male

Abrupt, blunt, club-shaped ending of cord at T12 level with thin syrinx in visualized lower thoracic cord.

Hypoplasia/dysgenesis of the sacrum is seen.

Postoperative changes are seen with laminectomy defects involving lumbar vertebrae.

Clumping of cauda equina roots is seen at the L2/3 level.

No evidence of intraspinal lipoma was seen in the present scan.

No significant disc bulge was seen.

No obvious pre-/paravertebral collection seen.

Left kidney is not visualized in left renal fossa. Suggested USG correlation, if clinically indicated.

Case Discussion

Abrupt, blunt, club-shaped ending of cord at T12 level with thin syrinx in visualized lower thoracic cord and hypoplasia/dysgenesis of sacrum consistent with type I caudal regression syndrome.

Clumping of cauda equina roots at L2/3 level consistent with arachnoiditis.

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