Congenital Scoliosis

From Neuropathic Pain: A Clinical Guide to Diagnosis by Robert J. Schwartzman, MD 1. Congenital scoliosis is the failure of normal vertebral development during the 4th to 6th week of gestation 1. Radicular pain from nerve root entrapment 2. Pain occurs both on the convexity and concavity of the curve 3. Concavity pain is posited to be generated by impingement of the facets. This frequently occurs at the apex of the lumbar curves at L3-L4 or L2-L3 4. Spinal stenosis pain:

• Usually, it is present with lumbar or lumbosacral deformity
• Patients develop postural change. They lean forward, develop a flat back and slightly bend their knees with walking

5. Patients may also have radicular pain from spondylolisthesis and degenerative disc disease 1. Scoliosis is a developmental defect in the formation of the mesenchymal component of the vertebrae 2. Failure of formation:

• A normal fully segmented hemivertebra (normal disc space above and below)
• Semisegmental hemivertebra:

– The hemivertebra is fused to the adjacent disc on one side

• In segmented hemivertebra:

– The hemivertebra is fused to the vertebra on each side

• An incarcerated hemivertebra:

– The affected vertebra is fused within the lateral margins of the vertebrae above and below

• Unincarcerated hemivertebra:

– Laterally positioned

• Wedged vertebra

3. Failure of Segmentation:

• Block vertebra:

– Bilateral bony bars

• Bar body:

– A unilateral unsegmented bar is common 4. Mixed:

• A unilateral unsegmented bar with contralateral hemivertebra
• Progresses the most rapidly

5. Associated conditions with congenital scoliosis:

• May occur in isolation
• Occur with systemic anomalies in approximately 60% of patients which include:

– Cardiac defects – 10% – Genitourinary defects – 25% – Spinal cord malformations – Associated syndromes that include: a Alagille syndrome b VACTERL syndrome c Jarcho-Levin Syndrome / spondylocostal dysostosis d Klippel-Feil syndrome 1. Renal ultrasound or MRI 2. Echocardiogram 1. MRI:

• All patients with congenital scoliosis need evaluation of the complete neuroaxis to rule out associated anomalies that occur in 20-40% of patients and include:

– Chiari malformations – Tethered cord – Syringomyelia – Diastematomyelia – Intradural lipoma 2. 3DCT

• Best delineates posterior bony anatomy

• Congenital scoliosis results from abnormal vertebral development during the 4th to 6th week of gestation, leading to structural spinal deformities.
• Clinical symptoms include radicular pain due to nerve root entrapment, pain on both convex and concave sides of curves, and spinal stenosis leading to postural changes like forward bending and flat back.
• Neuropathology involves vertebral malformations, including failures of formation (e.g., hemivertebra) or segmentation (e.g., block vertebra), and may be associated with systemic anomalies in 60% of cases, such as cardiac and genitourinary defects.
• Diagnostic evaluations include renal ultrasound or MRI and echocardiograms to assess associated anomalies, as congenital scoliosis often coexists with syndromes like VACTERL and Klippel-Feil syndrome.
• Neuroimaging with MRI is essential to detect spinal cord abnormalities (e.g., Chiari malformations and tethered cord), while 3DCT is used to assess posterior bony anatomy in detail.