Caudal Regression Syndrome - MedPix™ Patient: 14166

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Clinical Presentation: 15 y.o. girl

History

This 15 y.o. girl presented with a history of chronic back pain with no relief. She tried some NSAIDs which did not seem to help with the pain. She was later prescribed Vicodin and Lidocaine patches which seemed to mitigate the pain.

Physical Examination and Laboratory

Weight is 38.8 kg, pulse 85,
blood pressure 134/64. Head circumference 55 cm. She is bright, awake, alert, pleasant with fluent speech. Her head is normocephalic.
On physical examination, she has relatively good range of motion at both the hips. I was able to flex well past 90. There is no tenderness to palpation about the lumbar spine.

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Abdominal X ray showing sacral agenesis.

VCUG

VCUG with distended bladder due to n ...

MRI showing sacral agenesis

MRI showing caudal regression

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Image Findings

Image 1: Abdominal X ray showing the narrow hips and no evidence of a sacrum.

Image 2: T1 MRI showing the narrow and hypoplastic hips with sacral agenesis.

Image 3: T1 MRI also showing the hip narrowing.

Image 4: VCUG showing a distended bladder from neurogenic bladder caused by Caudal Regression syndrome.

Differential Diagnosis

â€¢ Sirenomelia
â€¢ Neural tube defect
â€¢ Segmental spinal agenesis
â€¢ VACTERL

Diagnosis

Caudal Regression Syndrome
Diagnosis Confirmed by: Imaging and Genetic consult

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Treatment and Followup

Tx and Followup:
Treatment:
1) Supportive including Physical Therapy in milder cases
2) Surgical includes amputation, contracture treatment

Follow up:
Lifetime follow-up is necessary especially during the first 3 years after diagnosis.

Additional Discussion:
This 15 year old patient had some noteworthy complications. Firstly, she had a neurogenic bladder that was repaired with a vesicostomy. Secondly, she had a meningomyelocele that was also repaired. These are two possible complications that must be accounted for in caudal regression syndrome.

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Contributor Credits

Submitted by: Vivek Yedavalli -
Case/Image Editor: Dawn E Light -

MedPix™ Sponsors

The MedPix™ Medical Image Teaching File Database and Atlas is sponsored by:
The Department of Radiology and Radiological Sciences
Uniformed Services University
Bethesda, Maryland 20814.

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