Not Leukodystrophy!!!

Well, this morning we got the email from Dr. van der Knaap. I'm glad it came so quickly. Here is a copy of that email:

Dear Mrs. and Mr. Clayton,

Thank you for sending me the MRIs of your son Bryce, born 25-01-2007.

The first MRI was obtained on 22-08-2008, at the age of 19 months. The images show that myelination is not yet entirely complete. It is at most mildly behind for the age.

A new MRI was obtained on 19-11-2008. The MRI shows again that myelination is not entirely complete and now definitely behind for the age. Other than that, the MRI of the brain is normal. The spinal cord MRI is also normal. There is no enhancement after contrast.

The third MRI was obtained on 26-06-2009. Myelination is not yet complete, which means that it is now definitely lagging behind for the age. There is no evidence of calcium deposits. The spinal cord MRI is normal. There is no enhancement after contrast.

I compared the first and the latest MRI image by image. I see no change.

Primary white matter disorders lead to prominent signal changes in the cerebral white matter, especially on T2-weighted images. If Bryce has neurological problems, they are in any case not related to a primary white matter disease. It is not possible to find a regression in clinical picture and no associated findings in primary white matter disorders. I would say that either the regression is explained by a neuronal disease or by a disease involving the peripheral nervous system. In neuronal disorders, I would expect delayed myelination (which is in fact present) in combination with progressive atrophy. The absence of progressive atrophy makes me doubt this diagnosis too.

All in all, you can be certain that your son does not have a leukodystrophy. Further diagnostic tests in that direction are not warranted. Feel free to share my letter with your neurologist and pediatrician in the USA.

I have never examined your son, so it is not possible for me to give suggestions about what could cause his problems.

Best regards,

Marjo S. van der Knaap, MD, PhD
Professor of Child Neurology
VU University Medical Center
P.O. Box 7057
1007 MB Amsterdam
The Netherlands
Phone: +31 20 4444856
Fax: +31 20 4440849
E-mail: ms.vanderknaap@vumc.nl

So, there you have it. According to her, he does not have leukodystrophy. We are thrilled with this information and hope that she is right. The only downfall is that we are, once again, back to where we were a year and a half ago and not quite sure where to go from here. I will keep you posted as this journey progresses!