Presentation
History of multiple corrective surgeries, VACTERL association, and significant congenital abnormalities affecting the genitourinary system, pelvis, and spine.
Patient Data
Complete sacral agenesis with midline fusion of the iliac bones and lumbar vertebra ending in L3 is evidenced by CT with 3D reconstruction. Absence of sacral segments and coccyx, and rectification of physiological curvatures of the spine are observed. The normal pelvic anatomy is dramatically changed by the midline fusion of the iliac bones. Additionally, a horseshoe kidney, with fusion of the lower renal poles, is noted.
Syringomyelia affects the dorsal and lumbar segments of the spinal cord, which are seen on T1 and T2 turbo spin-echo sequences in the sagittal, coronal, and axial planes and a STIR sequence. The examination reveals a low-lying conus medullaris ending at T11. A 5.2 mm dermal sinus tract in the sacrum is also observed, which is T1 hypointense and T2 hyperintense, with no evidence of inflammation. Horseshoe kidney is also confirmed with MRI to ensure that the malformations are congenital.
Case Discussion
The CT scan reveals severe sacral agenesis with pelvic fusion, typical features of caudal regression syndrome that may at times be accompanied by syndromic diseases such as VACTERL.
MRI findings suggest a tethered cord syndrome diagnosis, consistent with the patient's inability to ambulate and possibly neurogenic bladder dysfunction.
As syringomyelia and pathologic thickening of the filum terminale develop, the neurosurgical evaluation must decide whether surgical detethering is indicated.
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