MRI Results

We finally have the results of Jackson's MRI from last week. Dr. Cohn, his Genetic Neurologist, called me this morning to discuss it. And this time there actually are some findings to discuss. Here they are in official medical jargon:

Jackson has unilateral right cerebellar hypolasia with intact left cerebellar hemisphere and vermis (although the inferior vermis is lightly small). He also has subtly smaller volume of the left cerebral hemisphere, probably related to cerebellar-cerebral connection. Additionally there is a finding of a left parietal periventricular nodular heterotopia.



What does this mean? I've only had a few hours to digest all of this - and even less time to research it. The basics that I understand at this point are as follows:

• The volume of Jackson's left hemisphere is slightly diminished in size.
• His inferior vermis on his right side is slightly small. (I don't know what this is either.)
• In his left hemisphere there is gray matter where there should be white matter.

This last finding is the most significant. This is a Neuronal Migration disorder, meaning that when the cells of Jack's brain were forming in utero, some of the cells didn't get the message as to where they should be and what they should be doing. Hence the gray matter where the white matter should be. This mislocation of gray matter causes developmental delays, gross motor issues, hypotonia, speech and language delays, and seizures. And while Jack has only had one seizure, post operatively there is significant reason to believe he will have more seizures.

As with many neurological disorders, the severity of issues varies greatly from patient to patient. This condition is rare and nearly never found in live males. Most afflicted males die in utero.

During our conversation this morning, Dr. Cohn said we would be doing further genetic testing specifically, the Filamin A gene. It is very likely that we will find a mutation of this gene, given this is the most common cause of these malformations.

I suspect I will find more information on these issues. I spent a brief period of time Googling the subject this morning and now have a stack of reading material to get through while I wait for my flight home.