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Summary
Sacral agenesis, a rare spinal birth defect, often presents with other congenital issues and neurogenic bladder dysfunction. Radiographic views are crucial for diagnosis, but the extent of neurological deficit is not predictable from imaging alone.
Area of Science:
- Pediatric Orthopedics
- Developmental Biology
- Medical Imaging
Background:
- Sacral agenesis is a rare congenital spinal anomaly.
- It is frequently associated with other developmental abnormalities.
- Urologic complications are common in patients with sacral agenesis.
Purpose of the Study:
- To review cases of sacral agenesis.
- To identify associated abnormalities and clinical findings.
- To evaluate the relationship between radiographic findings and neurological deficits.
Main Methods:
- Retrospective review of 22 patients with sacral agenesis.
- Clinical examination for physical findings.
- Radiographic spinal imaging (anteroposterior and lateral views).
- Assessment of associated congenital and developmental abnormalities.
Main Results:
- Twenty-one of 22 patients had additional congenital/developmental abnormalities.
- Common physical findings included flattened buttocks and palpable sacral defects.
- Spinal imaging, particularly lateral views, is essential for diagnosis.
- Familial history of diabetes mellitus was noted in seven patients.
- All patients with >1 sacral segment involvement had neurogenic bladder dysfunction.
- Radiographic appearance did not predict the degree of neurological deficit.
Conclusions:
- Sacral agenesis is a complex condition often part of a broader spectrum of congenital anomalies.
- Neurogenic bladder dysfunction is a significant complication, especially with extensive sacral involvement.
- Clinical and radiographic assessments are vital, but neurological outcomes require further evaluation beyond imaging.