Caudal regression syndrome

Case contributed by Dr Prashant Mudgal

Presentation

infant of diabetic mother with severe gluteal muscle atrophy.

Patient Data

Age: 6 month
Gender: Female
X-ray

Both the iliac blades are fused in mid line with non visualization of sacrum and coccyx.

MRI

There is agenesis / hypoplasia of the sacrum and the lower two lumbar vertebral bodies with fusion of the iliac bones posteriorly in the midline.

There is abrupt termination of the spinal cord at upper border of T11 vertebra with a blunt cauda equina.

There is narrowing of the pelvis with significant atrophy of the gluetal muscles.

A cyst seen as hyperintense on STIR is noted in the midline posterior to the anal canal.

Case Discussion

Caudal regression syndrome is a rare disorder of distal spinal segments affecting the development of the spinal cord, with attendant sequelae. Intelligence is preserved. The exact etiology is elusive, though maternal diabetes, genetic factors, and hypoperfusion might play roles.

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Case information

rID: 26677
Case created: 2nd Jan 2014
Last edited: 11th Mar 2016
Tag: pm
Inclusion in quiz mode: Included

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