Caudal Regression Syndrome

History: 1-month-old girl with a lumbosacral abnormality

Findings: AP and lateral plain films of the abdomen demonstrate agenesis of the lumbar spine and severe hypoplasia of the sacrum with fused iliac bones. A sagittal T1 MRI scan shows the lumbosacral abnormality as well as a blunted cord that ends at the T10-T11 level.

Diagnosis: Caudal regression syndrome with lumbosacral agenesis

Discussion: The caudal regression syndrome is a congenital anomaly in which there is abnormal formation of the lower portion of the spine and spinal cord. There is a spectrum of abnormality with varying degrees of lumbosacral hypoplasia or aplasia. This anomaly is frequently associated with abnormalities of the genitourinary system and with lower extremity sensory and motor abnormalities. A high percentage of infants with this condition are born to diabetic mothers. The distal spinal cord typically has a blunted appearance. The cause for this condition is unknown but appears to be the result of some disturbance in the caudal mesoderm early in gestation.

Aunt Minnie’s Pearls

  • Sacral agenesis with fused iliac bones and associated cord anomalies = caudal regression syndrome
  • Many infants with this disorder are born to diabetic mothers.



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