Caudal regression syndrome - type 1

Case contributed by Dr Sathiyaseelan Maniharan


Bowel and urinary incontinence since childhood. No limb weakness

Patient Data

Age: 10-15 years
Gender: Male

There is club shaped or wedge shaped abrupt ending of the conus medullaris at upper part of the L1 vertebral level. Bilateral partial sacral agenesis with last intact vertebra of S2 is also seen. Thoracic spinal cord shows syrinx from D2 to D7 levels. No pelvic mass is seen.

Case Discussion

The caudal regression syndrome is resulting from insult to the early stages of gestation. This is common to an infants born in diabetic mothers 1.

Caudal regression syndrome is two types.

  • type 1:
    • characterized by club shaped or wedge shaped conus medullaris abruptly ending above the lower border of the L1 vertebra
    • associated with major sacral dysgenesis, in severe cases last intact vertebra is at T11 or T12 level 2
    • usually presented with motor weakness and/or urinary and bowel symptoms 1  
    • usually lumbosacral neurological sensation is less affected 1
  • type 2:
    • characterized by low lying tethered cord in which conus ends caudal to lower border of L1
    • sacral agenesis is usually less severe
    • associated with severe neurological disturbances with deterioration 1

Prognosis is depending on severity of the condition and presence of associated anomalies 2.

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Case information

rID: 52113
Published: 26th Mar 2017
Last edited: 27th Mar 2017
System: Spine
Inclusion in quiz mode: Excluded

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