Monday, August 3, 2015

Schwannomatosis

Now this blog has primarily focused on Neurofibromatosis Type 1, and there has been a post earlier on about NF-2, so now lets focus on another condition that belongs to the NF family... Schwannomatosis! Schwannomatosis is a rare form of NF, and it has a prevalence rate of approximately 1 in 40, 000 people (just for comparison NF-1 is 1 in 3,000). In this condition, a special kind of cells called Schwann cells overgrow and develop tumors. Schwann cells speed up the rate at which messages are sent in the brain, and are found throughout the peripheral nervous system.

Signs and Symptoms 


  • Chronic pain, which can occur in any part of the body 
  • Ultimately signs and symptoms depend on where in the nervous system tumors decide to grow. For example. schwannomas in the arms and legs typically cause an "electric shock" like pain, while tumors in the spine and on spinal nerve roots can cause symptoms like weakness or loss of sensation in the extremities 


Diagnosis 

Genetic testing is completed to look for mutations in the INI 1 gene, which play a role in tumor growth supression.

Diagnostic Criteria 


  • Individual is OVER the age of 30
  • AND has two or more non-intradermal schwannomas (not in the skin)
  • AND has no evidence of tumors on the auditory nerve
  • AND has no known history of NF-2 
OR
  • Patient has at least one schwannoma and has a first degree relative with Schwannomatosis
Treatment 

Ideally, the best treatment for Schwannomatosis is pain management. These patients are typically referred to pain specialists in large medical centers, where they can put together comprehensive care plans to help patients deal with their pain. If pain management is unsuccessful, then surgery can be done to remove tumors. Sometimes removal of these tumors can lessen the patients pain, but just like with NF these tumors will often grow back, so surgery can sometimes only be a temporary fix.

I hope you all learned lots learning about this "sister" condition to Neurofibromatosis. If you would like to learn more check out some of the links below!

Court





References: 
http://www.ctf.org/Learn-About-NF/Schwannomatosis.html
http://www.nfauk.org/what-is-neurofibromatosis/schwannomatosis/ 
http://www.hopkinsmedicine.org/neurology_neurosurgery/centers_clinics/neurofibromatosis/schwannomatosis/ 
http://www.nfnetwork.org/understanding-nf/what-is-nf/schwannomatosis


1 comment:

  1. I like that you show NF aa a family. I think many other conditions are family as well...for example dementia. Keep posting. I learn something new every time.

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