Differentials
Spine segmental dysgenesis
SIGNS / SYMPTOMS
A sporadic disorder characterized by congenital acute-angle kyphosis or kyphoscoliosis that is localized to a spinal segment, usually in the thoracolumbar or upper lumbar spine.[96]
The spine is normal above and below the affected area, and neurologic impairment is due to congenital hypoplasia or absence of roots at the segment rather than to cord tethering.
INVESTIGATIONS
Plain radiographs will show vertebral anomalies such as hemivertebrae.
MRI spine documents the specific spine and cord pathology such as vertebrae fusions or hemivertebrae, split cord, nerve malpositions, and low-lying cord.
Caudal regression syndrome (sacral agenesis)
SIGNS / SYMPTOMS
A rare disorder associated with maternal diabetes that affects the sacral or lumbosacral spine.
Patients typically have sparing of sensation and characteristic sacral anomalies.
INVESTIGATIONS
Plain radiographs and MRI spine will show the characteristic bony defects.
Multiple vertebral segmentation disorder
SIGNS / SYMPTOMS
Autosomal recessive disorder characterized by short trunk dwarfism, multiple segmentation anomalies of the vertebral column, and costal anomalies.
INVESTIGATIONS
Plain radiographs and MRI spine identify the dystrophic vertebrae and/or multiple fused vertebrae, kyphosis, split cord, syrinx, and dystrophic cord.
VACTERL (vertebral abnormalities, anal atresia, cardiac abnormalities, tracheoesophageal fistula and/or esophageal atresia, renal agenesis, and dysplasia and limb defects)
SIGNS / SYMPTOMS
A nonrandom association of multiple midline congenital anomalies including vertebral, anal, and cardiac defects; tracheoesophageal fistula; renal anomalies; and limb anomalies.
INVESTIGATIONS
Plain radiographs will show bony defects.
Barium enema identifies fistulas and imperforate anus.
Echocardiography reveals cardiac anomalies.
Renal ultrasound will identify hydronephrosis and associated renal anomalies.
MRI identifies characteristic spine and cord malformations.
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