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Caudal regression syndrome

Case contributed by Ahmed Elowaidy
Diagnosis almost certain

Presentation

Urinary incontinence and lower limb weakness.

Patient Data

Age: 9 years
Gender: Female

Lumbosacral spine

x-ray

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.

Lumbosacral spine

mri

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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