Caudal regression syndrome - type 1

Case contributed by Sathiyaseelan Maniharan
Diagnosis certain


Bowel and urinary incontinence since childhood. No limb weakness

Patient Data

Age: 10-15 years
Gender: Male

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

Case Discussion

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

Caudal regression syndrome comprises two types.

  • type 1:
    • characterized by a 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, the last intact vertebra is at T11 or T12 level 2
    • usually presents with motor weakness and/or urinary and bowel symptoms 1  
    • usually lumbosacral neurological sensation is less affected 1
  • type 2:
    • characterized by a low-lying tethered cord in which the conus ends caudally to the lower border of L1
    • sacral agenesis is usually less severe
    • associated with severe neurological disturbances with deterioration 1

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

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