Caudal regression syndrome

Case contributed by Dr Ahmed Elowaidy

Presentation

Urinary incontinence and lower limb weakness

Patient Data

Age: 9 years old
Gender: Female

LSS Xray (Frontal and lateral views)

Modality: 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

MRI LSS

Modality: MRI

The MRI confirm 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 synrinx in the visualised cords, or meningiocoele / meningiomyelocoele, and no hydrocephalus (not shown here)

No other associated vertebral anomalies in the rest of her spine (not shown)

In conclusion, findings are compatible with type I caudal regression syndrome

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Case Information

rID: 24840
Case created: 15th Sep 2013
Last edited: 10th Sep 2015
Inclusion in quiz mode: Included

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