Our Summary

This research paper focuses on a condition called Arthrogryposis multiplex congenita (AMC) which is a congenital disease that affects joints in at least two places. People with AMC can also have related conditions like scoliosis (a sideways curvature of the spine) and neural axis malformations. The study specifically looks at how frequently a condition known as tethered spinal cord (TSC) occurs in children with AMC. TSC is characterized by an abnormally low position of the conus medullaris, the lower end of the spinal cord.

To do this, the researchers identified patients under 18 years of age with AMC who had undergone a spine MRI. They defined TSC as a conus that ended at or below a certain point on the spine. Two specialists - a pediatric neurosurgeon and a pediatric orthopaedic surgeon - independently reviewed the MRI results. They also looked at the medical records of AMC patients who had undergone surgery to untether their spinal cord, in order to evaluate their condition before and after the operation.

The study found that 40% of the 105 AMC patients had TSCs - a significantly higher percentage than in the general population. Sixteen of these patients had undergone a surgical procedure to detether their spinal cord. Nine of these had additional neurological deficits before the operation. However, no postoperative complications were reported, and all patients showed improvement in certain symptoms within three months of their surgery.

In conclusion, the study found that TSC is more common in children with AMC than those without, and recommends MRI for all AMC patients due to this high prevalence. It also suggests that surgical detethering, while not a benign procedure, may be beneficial for children with AMC.

FAQs

  1. What is the prevalence of tethered spinal cord (TSC) in patients with Arthrogryposis multiplex congenita (AMC)?
  2. What are the potential benefits of surgical detethering for children with AMC?
  3. What improvements were observed in patients after undergoing detethering surgery?

Doctor’s Tip

A doctor may tell a patient undergoing detethering surgery for arthrogryposis multiplex congenita to expect improvement in bowel and bladder symptoms within 3 months after the procedure. It is also important for all patients with AMC to undergo an MRI due to the high prevalence of tethered spinal cord in this population.

Suitable For

Patients with arthrogryposis multiplex congenita (AMC) who also have symptoms of tethered spinal cord (TSC) are typically recommended for detethering surgery. This includes patients with a low-lying conus medullaris, neurological deficits, and bowel and bladder symptoms. It is important for all patients with AMC to undergo MRI screening to detect the presence of TSC and determine the need for surgical intervention.

Timeline

  • Before surgery:
  1. Patient is diagnosed with arthrogryposis multiplex congenita (AMC) and undergoes spine MRI.
  2. Tethered spinal cord (TSC) is identified in 40% of patients with AMC.
  3. Pediatric neurosurgeon and orthopaedic surgeon review MRI to confirm TSC.
  4. Patients with TSC may experience neurological deficits and symptoms related to bowel and bladder function.
  5. Decision is made to proceed with surgical detethering if deemed necessary.
  • After surgery:
  1. Surgical untethering is performed through filum terminale sectioning.
  2. Postoperative complications are monitored, but none are reported in this study.
  3. Patients with preoperative neurological deficits see improvement in bowel and bladder symptoms within 3 months post-surgery.
  4. Follow-up care and monitoring are provided to ensure continued improvement and recovery.

What to Ask Your Doctor

  1. What is the likelihood that I have a tethered spinal cord based on my condition of arthrogryposis multiplex congenita (AMC)?
  2. What are the potential risks and benefits of undergoing detethering surgery for a tethered spinal cord?
  3. How will detethering surgery impact my current neurological deficits, if any?
  4. What is the typical recovery process like following detethering surgery?
  5. Are there any long-term complications or considerations I should be aware of after undergoing detethering surgery?
  6. How experienced are you in performing detethering surgery for patients with AMC?
  7. Are there any alternative treatment options available for managing a tethered spinal cord in patients with AMC?
  8. How soon after surgery can I expect to see improvements in my bowel and bladder symptoms?
  9. Will I need any additional follow-up appointments or treatments after undergoing detethering surgery?
  10. Are there any lifestyle changes or precautions I should take after detethering surgery to prevent complications or recurrence?

Reference

Authors: Nugraha HK, Hariharan AR, Huser AJ, Feldman DS, Asadi-Moghaddam K. Journal: J Pediatr Orthop. 2025 Feb 1;45(2):e186-e191. doi: 10.1097/BPO.0000000000002839. Epub 2024 Oct 9. PMID: 39380182