Presentation
Urinary incontinence and lower limb weakness.
Patient Data
Age: 9 years
Gender: Female
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There is absent lower sacrum and coccyx with hypoplasia of S2.
No hip dislocations or subluxation seen.
Some bowel loops appear distended with fecal loading.
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The MRI confirms the x-ray findings. There is abrupt truncation of the conus medullaris at the level of T12/L1 (normally should end at L1/L2), no tethered cord seen.
No spinal masses seen or syrinx in the visualized cord, or meningocele/meningomyelocele, and no hydrocephalus (not shown here).
No other associated vertebral anomalies in the rest of her spine (not shown).
Case Discussion
Findings are compatible with type I caudal regression syndrome.
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