About Polymicrogyria

What I've learned about PMG (Polymicrogyria):

Some of this information was gathered when I had my appointment with Dr.Guerrini. Some was gathered at his Pull-out session at the convention and some was gathered from various medical articles I've read.

Please Lori, Sally and Mary - you were all at the pull-out session, so if I've remember things incorrectly speak up! Or if I missed a point, please add it!

1st of all I think the following statistics would change (be lowered) if all the people with PMG were found. I found a recent article that spoke about 3 children who'd been diagnosed with PMG who didn't have any outward symptoms. No problems eating, speaking, drooling. etc. (It didn't say what brought about the MRI's) So as more people are diagnosed with it, but without the more obvious symptoms, then say the statistic of mental retardation would change from 85% to say 70%.

According to Dr. Guerrini:

Congenital Bilateral Perisylvian Syndrome (CBPS)1 - Main Clinical Features are statistically:

100% with Abnormal Tongue Movements (ie Teddy can't move his tongue side to side)
100% with Dysarthria (speech problems)
85% with Mental Retardation
81% with Dysphasia (swallowing problems)
75% with Absent Gag Reflex (Teddy was born without gag reflex but later acquired it)
71% with Drooling
71% with Pyramidal signs
20% with Club feet (which Eiler Buck has)
13% with Arthrogryposis multiplex

Dr. Guerrini also educated us as to Diffuse vs. Regional2 and 4 layer vs. unlayered cortex3. He said Regional 4 layer is the least damage and Diffuse unlayered is the most damaged.   Teddy has Diffuse 4 layer so they didn't expect him to be running around waving bye-bye and playing hide and seek with them. (click here for cortical malformations)

Dr. Guerrini told me at my appointment that PMG  occurs during the 5th & 6th month of pregnancy4. That's why it's different from ILS/MDS which happens during the 1st three months of pregnancy. He said typical PMG patients have a 50% chance of ever having seizures. He felt that since Teddy's brain was more damaged (ie Diffuse) that his chances were higher, not the 90% that ILS/MDS has, but higher than 50%. He said he too believes that many people have PMG that aren't diagnosed properly. He usually diagnoses them when they come to his epilepsy clinic. If they never have seizures they might never have an MRI and never get diagnosed properly5. (click here for CMV study)

On an aside, one article I read says that they often find PMG in identical twins where one of the twins has died in utero. Apparently the death can cause the development of the other twin to be affected. Now I didn't lose Hunter, but he did apparently get too much blood while Teddy had too little(you could see it at birth).

I know I missed or forget a lot from the convention so if those who remember other things would pitch in I'd appreciate it.

Kim & Teddy (2 yrs old w/PMG)

Notes by Sally:

1. One of the varieties of Polymicrogyria.

2. Diffuse in this case, means all over the brain, where as regional means one or more small parts are affected.

3. A normal cortex is 6 layered.

4. Causes of PMG may be either genetic (there may be as many as 5 genes associated with PMG), due to CMV infection or due to oxygen starvation. Any of these causes can affect the brain development in those middle months of pregnancy.

5.  Poor MRI's or inexperienced reading of MRI's of PMG may sometimes be interpreted as pachygyria, which can further confuse the issue.

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