Diagnosis and Management of Sacral Agenesis

Sacral Agenesis in Siblings

“…Although in the beginning the anomaly was thought to be a form of bony malformation associated with static neurologic deficits, in recent years several cases with progressive neurologic deficits have been reported [3,7]. Neurologic deficits do not correlate closely with the level of osseous abnormality, and motor nerve deficit has been found to be more pronounced than the sensory deficit.…”

“…As a result, poor anal sphincter tone is frequently noted instead of perianal anesthesia. Again, on the other hand a delay in diagnosis has been reported because of the subtelty of the defect, and the urological consequences as a result of damage by vesicoureteral reflux, hydronephrosis and urinary tract infection can be severe and irreversible [7,8,14].…”

“…Taking the variable nature of this defective development into account, bladder function can be subtle. This subtelty may lead to a delay in diagnosis and the development of compromised renal parenchyma [7]. Early diagnosis and conservative treatment with clean intermittent catheterization are important factors in the proper management of such cases [8,9].…”

Agenesis and Dysgenesis of the Sacrum: Neurosurgical Implications

“…Neuropathological findings associated with sacral agenesis and sacral dysgenesis have been extensively de tailed [1,5,11,19,[23][24][25]31,34,36,39,40]. Pathological studies of the spinal cord have demonstrated filar lipoma, truncated bulbous conus, cord tethering, conus syrinx, fusion of spinal nerves and sensory ganglia, and distal spi nal cord agenesis [24,31].…”

“…The association with multisys tem and syndromic anomalies in our series is in contradis tinction to Pang's [5] demonstration of a higher incidence in patients with symmetrical vertebral loss. The associa tion of asymmetrical sacral anomalies with spina bifida has been made before [36].…”