Indulge in the fascinating world of

Today, I was browsing WordPress randomly, and I came across a blog titled Neurofibromatosis Cafe. It is run by Reggie Bibbs, who has a rare disorder called neurofibromatosis. NF is an autosomal dominant genetic disorder, and it has two types:

• NF 1: Incidence 1:3500
• NF 2: Incidence 1:40,000

NF 1 is characterized by skin lesions (neurofibromas), hamartomas of the iris, pigmented birthmarks, and tumors of the optic nerve. A typical example is shown here:

NF 2 is characterized by bilateral acoustic neuromas on the vestibulocochlear nerve. Here is a CT scan showing an example of NF 2 (black arrows):

The problem with neuromas is that they are very difficult to operate and may cause serious symptoms, though benign. A team of surgeons at the Mayo Clinic reported that they can identify patients with confidence whose operational outcomes would be favorable using an 3-Tesla MRI scanner. This is great, because we are talking about a rare disorder, therefor surgeons cannot get adequate experience to operate neurofibromas with high success. If the surgeon is able to visualize the anatomical position and relation correctly beforehand, then the operation will more likely succeed.

This new technology allows a multidisciplinary approach to be performed safely in these rare tumors that were once considered unresectable, says Dr Spinner.

If you would like to get more information, I recommend the following articles and websites:

• Original article
• Article from the JYI
• About this disorder
• NF information page
• NF Blog

And a video from YouTube:

- Andras