Tethered cord in a patient with multiple vertebral segmentation defects: a case report.
Short trunk dwarfism with multiple vertebral segmentation defects (MVSD) represents a heterogeneous group of disorders characterized by the presence of multiple vertebral and rib abnormalities. A two and one-half year-old female with the spondylothoracic dysostosisform of MVSD is presented. In addition to skeletal anomalies, a lumbar hemangioma, bilateral foot deformities, distal leg atrophy and weakness, and areflexia at the ankles were present. An underlying neuropathic process was suspected. Results of urodynamic studies were suggestive of a neurogenic bladder. Magnetic resonance imaging of the spine demonstrated a tethered spinal cord. Although various brain and spinal cord anomalies have been described in MVSD, this is the first reported case, to our knowledge, of a tethered spinal cord in a patient with MVSD. We recommend that the management of patients with MVSD include comprehensive neurological evaluation and monitoring with appropriate electrodiagnostic, urodynamic, and neuroimaging studies.
Sala
D A
DA
The Center for Children, Hospital for Joint Diseases, New York, New York 10003, USA.
Chu
M L
ML
Moran
E
E
Bencardino
J
J
Vine
D T
DT
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002675:Child, Preschool; D004392:Dwarfism / Q000000981:diagnostic imaging*; D004413:Dysostoses / Q000151:congenital / Q000000981:diagnostic imaging*; D005260:Female; D006801:Humans; D007738:Kyphosis / Q000175:diagnosis*; D008279:Magnetic Resonance Imaging; D011859:Radiography; D013116:Spinal Cord / Q000002:abnormalities* / Q000601:surgery