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Caudal regression syndrome

Case contributed by Dr Jeremy Jones

Presentation

Multiple congenital anomalies (including cardiac). Dysmorphic. Exclude structural spinal deformity.

Patient Data

Age: 1 month
Gender: Male
X-ray

The spinal alignment is normal and there is no segmentation or fusion defect. However, the sacrum is absent with abnormal position of the iliac blades that are medial and angulated.

MRI

There is abrupt termination of the spinal cord at the level of T10.  The previously demonstrated abnormal pelvis with sacral agenesis is again demonstrated.  Features of caudal regression syndrome.

Case Discussion

Features here are of caudal regression syndrome with sacral agenesis and abrupt termination of the cord and an abnormally high termination point.

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Case information

rID: 23610
Published: 27th Jun 2013
Last edited: 14th Aug 2019
Inclusion in quiz mode: Included

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