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Tethered cord in a patient with multiple vertebral segmentation defects: a case report
1The Center for Children, Hospital for Joint Diseases, New York, New York 10003, USA.
Bulletin (Hospital for Joint Diseases (New York, N.Y.))
|May 11, 2002
Summary
Short trunk dwarfism with multiple vertebral segmentation defects (MVSD) can involve neurological issues. This case highlights a tethered spinal cord, previously unreported in MVSD patients, emphasizing the need for neurological monitoring.
Area of Science:
- Medical Genetics
- Pediatric Orthopedics
- Neurology
Background:
- Short trunk dwarfism with multiple vertebral segmentation defects (MVSD) is a group of disorders.
- These conditions are defined by vertebral and rib abnormalities.
Observation:
- A pediatric patient with spondylothoracic dysostosis, a form of MVSD, presented with skeletal anomalies.
- Additional findings included a lumbar hemangioma, foot deformities, leg weakness, and absent ankle reflexes.
Findings:
- Urodynamic studies indicated a neurogenic bladder.
- Spinal MRI revealed a tethered spinal cord, a novel finding in MVSD.
Implications:
- This is the first reported instance of a tethered spinal cord in a patient with MVSD.
- Comprehensive neurological evaluation, including electrodiagnostic, urodynamic, and neuroimaging studies, is recommended for MVSD management.