Caudal regression syndrome

Case contributed by Dr. Eid Kakish

Presentation

Newborn male with anal atresia, and lower limb deformities, born to a diabetic mother. Part of patient's skeletal survey.

Patient Data

Age: Neonate
Gender: Male
X-ray

X-ray

Frontal radiograph shows gaseous distended bowel loops, deeming it almost impossible to comment on the lower spine. However, the iliac bones appear to be opposed. 

The lateral view shows complete lumbosacral agenesis below the level of L1 vertebral body.

Unfortunately, MRI images are not available to evaluate the cord. They can be, hopefully, uploaded later to follow this case up.

CT

3D-Volumetric rendering shows iliac bone opposition, with abscence of the lumbosacral spine.

Incidental bilateral bifid ribs.

Case Discussion

Caudal regression syndrome is characterised by: 

  • absence of vertebral column, usually below level of L1.
  • occurs as a result of notochordal cell apoptosis, not formed in their correct craniocaudal position. 
  • may be seen with:
    • OEIS (Omphalocele, Exstrophy, Imperforate anus, Spinal Defects)
    • VACTERL
    • Currarino Triad (Sacral agenesis, Anal atresia/ malformation, Presacral mass; Meningocele/ Teratoma)
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Case information

rID: 48381
Case created: 4th Oct 2016
Last edited: 13th Oct 2016
Inclusion in quiz mode: Included

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