Our Summary

Rubinstein-Taybi syndrome (RTS) is a rare genetic disorder characterized by certain physical traits. This study looked back at cases of RTS from a single hospital between 2010 and 2023 to understand how neurosurgery can help manage this condition.

The study included 21 patients, ranging from newborns to 22 year olds. Most of these patients (95%) had a specific genetic mutation known as RTS type 1, while one patient had a different mutation (RTS type 2).

About half of the patients (48%) had a condition where the lower end of the spinal cord is positioned lower than normal. Of these, 30% needed surgery to free the spinal cord. Additionally, 19% of patients had a condition known as Chiari malformation, where brain tissue extends into the spinal canal. Of these, 75% needed surgery to create more space for the brain and spinal cord. One patient had a related condition where a fluid-filled cyst forms within the spinal cord.

The study found that people with RTS have a higher chance of needing surgery to free the spinal cord. It also found, for the first time, that these patients have a high chance of having Chiari malformation that requires surgery.

FAQs

  1. What is Rubinstein-Taybi syndrome (RTS) and what does the study reveal about its management?
  2. What percentage of RTS patients in the study needed surgery for the condition where the lower end of the spinal cord is positioned lower than normal?
  3. What is Chiari malformation and how often did it require surgery in RTS patients according to the study?

Doctor’s Tip

A doctor might tell a patient undergoing detethering surgery for Rubinstein-Taybi syndrome to follow all post-operative care instructions carefully, including taking prescribed medications, attending follow-up appointments, and avoiding strenuous activities that could put strain on the surgical site. It is important to communicate any new symptoms or concerns to your healthcare provider promptly to ensure proper recovery and management of the condition.

Suitable For

Detethering surgery is typically recommended for patients with Rubinstein-Taybi syndrome who have conditions such as tethered spinal cord, Chiari malformation, and spinal cord cysts. These conditions can cause symptoms such as weakness, numbness, and pain in the lower extremities, as well as issues with bladder and bowel function. Surgery is often necessary to prevent further neurological damage and improve quality of life for these patients.

Timeline

Before detethering surgery:

  • Patients may experience symptoms related to the tethered spinal cord, such as back pain, leg weakness, and urinary incontinence.
  • Patients may undergo imaging studies, such as MRI, to confirm the presence of a tethered spinal cord and associated conditions like Chiari malformation.
  • Patients may undergo conservative treatments, such as physical therapy or medication, to manage symptoms before considering surgery.

After detethering surgery:

  • Patients will undergo the surgical procedure to release the tethered spinal cord and address any associated conditions, such as Chiari malformation.
  • Patients may experience a period of recovery in the hospital, followed by physical therapy and rehabilitation to regain strength and function.
  • Patients may experience improvements in symptoms related to the tethered spinal cord, such as decreased pain and improved mobility.
  • Patients will have follow-up appointments with their neurosurgeon to monitor their recovery and address any ongoing concerns.

What to Ask Your Doctor

Some questions a patient should ask their doctor about detethering surgery for Rubinstein-Taybi syndrome include:

  1. What is the purpose of detethering surgery and how will it benefit me or my child with RTS?
  2. What are the potential risks and complications associated with detethering surgery?
  3. How long is the recovery process after detethering surgery and what can be expected during this time?
  4. Are there any alternative treatment options to detethering surgery that should be considered?
  5. How many detethering surgeries have you performed for patients with RTS and what is your success rate?
  6. What is the long-term outlook for patients with RTS who undergo detethering surgery?
  7. Will additional follow-up appointments or treatments be necessary after detethering surgery?
  8. Are there any specific precautions or lifestyle changes that should be implemented post-surgery to ensure optimal recovery?
  9. How will detethering surgery impact any existing neurological symptoms or conditions associated with RTS?
  10. Are there any specific guidelines or recommendations for managing pain or discomfort after detethering surgery?

Reference

Authors: Shanahan RM, Hudson JS, Piazza MG, Kehinde F, Anand SK, Ortiz D, Madan-Khetarpal S, Greene S. Journal: Pediatr Neurosurg. 2024;59(5-6):181-192. doi: 10.1159/000540931. Epub 2024 Aug 19. PMID: 39159611