Sacral agenesis and caudal spinal cord malformations

Area of Science:

• Pediatric Neurology
• Developmental Biology
• Medical Imaging

Background:

• Sacral agenesis (SA) is a complex congenital anomaly affecting the lumbosacral spine.
• Associated conditions include OEIS complex and VATER syndrome, presenting with diverse malformations.
• Patients exhibit characteristic physical features and significant neurological deficits.

Purpose of the Study:

• To characterize the neuroimaging findings in sacral agenesis.
• To correlate imaging findings with clinical presentation and severity of malformations.
• To investigate the relationship between conus medullaris position and spinal abnormalities.

Main Methods:

• Retrospective study of 33 children and 1 adult with sacral agenesis.
• Utilized computed tomographic myelography and/or magnetic resonance imaging for detailed spinal assessment.
• Mean follow-up period of 4.7 years to monitor clinical progression.

Main Results:

• Lumbosacral sensation was better preserved than motor function; urinary and bowel symptoms were universal.
• Neuroimaging showed nonstenotic narrowing of the caudal bony canal and dural sac in most patients.
• Three patients (9%) had symptomatic dural stenosis. Conus medullaris position (above or below L1) correlated with sacral malformation severity.

Conclusions:

• Sacral agenesis presents with consistent neurological and physical findings, including sensory-motor deficits and bowel/bladder dysfunction.
• Neuroimaging is crucial for identifying structural abnormalities like dural narrowing and conus medullaris variations.
• The level and morphology of the conus medullaris are significant indicators of sacral malformation severity.