Corey’s MRI Findings by Dr. Dobyns and Dr. Walsh

Corey’s MRI was originally read as Perisylvian Syndrome. However, I heard Dr. Dobyns and Dr. Walsh evaluated MRIs for free and knew we needed another opinion. Corey had received quite a few diagnoses by this time. If you are needing the results quickly you can pay for a full report.

I suggest to everyone who contacts me through this site to get a second opinion with the Dr. Dobyns and Dr. Walsh.

One, you need to know what your child really has as a diagnosis.

Two, these doctors are world experts on Pachygyria and Lissencephaly. It is very useful for them to know how many children have Pachygyria and Lissencephaly as it is so rare.

Three, it is possible your child can be in the studies and have further testing through one blood draw. We had 2 genetic tests done through our insurance and Katie Becket medicaid. The other 2 tests were done for free in the research studies. The other tests used blood drawn on the first genetic tests.


Email clippings from Dr. Dobyns at University of Chicago for Corey in 2006-2007

The correct diagnosis is “paracentral pachygyria“, a mild form of Lissencephaly.

The term Perisylvan Syndrome refers to a similar malformation known as Polymicrogyria. So this is very similar, but not quite the same thing.

Hypotonic Cerebral Palsy is a non-specific label that could be used as a secondary diagnosis.

The Lissencephaly website mentions heart problems but this variant does not have heart problems and is not relevant for Corey. No EKG needed.

The Lissencephaly website mostly does not apply. The internet does not have information on this form of Pachygyria. (2006-2007 time frame. More information may be available at this time.)

For reproduction, we will need to see when he grows up. But he might pass the disorder on, possibly, not sure. (The Lissencephaly site said they can not reproduce.)

Degenerative or regressive? Highly unlikely, except seizures can become a problem.

Corey’s brain scan shows a very rare, relatively mild variant of lissencephaly (LIS), in which a less severe degree of LIS known as Pachygyria (“thick cortex”) affects the middle and posterior parts of his brain. To compare this for you, this involves about 1/2 of his brain with the cortex (nerve cell layer) about 2x normal thickness, while the typical forms of LIS affects 90-100% of the brain with a cortex about 4x the normal thickness.

Complete MRI description
LIS4pa variant. MRI at 6y on CD shows nearl normal gyral pattern anteriorly, mod pachygyria over posterior frontal lobe-perisylvian- posterior temporal lobe-parietal lobe, most severe over perisylvian-parietal lobe, mod thick 6-10 mm cortex in most severe areas, normal hippocampus, basal ganglia and thalamus, thin white matter, mildly enlarged lateral ventricles posteriorly, normal corpus callosum, brainstem and cerebellum, and minimally enlarged cisterna magna. This is the mild perisylvian-posterior variant of LIS.

I don’t have a good name for this disorder yet; I just code it as mild (grade 4) posterior LIS or Pachygyria.

I have reviewed scans on only two other children with this rare subtype, out of more than 1,000 that I have reviewed over the years. This disorder is associated with developmental handicaps and epilepsy, but less severe than the typical forms of LIS. … Neither of the other children had any other birth defects.

I do not know the cause of this particular condition. The three children are all boys with no affected sibs. But this is too little information to draw any conclusions. He should have two genetic tests for LIS, consisting of (1) testing for deletions of chromosome 17 by FISH analysis, and (2) sequencing of the LIS1 gene. If negative, he would be very appropriate to add to our LIS research testing. (Corey had these tests and they were negative as well as 2 new tests since that time.)

My focus is on finding the causes of PMG, so I focus on correct diagnosis of the malformation and overall syndrome. I have some experience with medical management, but this is variable because the severity of PMG is so great among different kids. So medical management is based more on the specific problems than on PMG per se.


This email was posted with permission from Dr. Dobyns.

2007 Update:
We are testing several new genes in my research lab, on kids in whom the common clinical tests are negative. New genetic test called MLPA.

Corey has real LIS with a LIS1 pattern, although less severe than typical.

William B. Dobyns, MD ( 2017 Located in Seattle  )

MRI Report

This is Corey’s MRI report from 1/12/2005 that was diagnosed with congenital perisylvian syndrome. The diagnosis was changed by Dr. Dobyns and he said it is a very easy mistake to make with the closeness in malformations.

Extensive neuronal migration disorder and congenital perisylvian syndrome (diagnosis term changed).

There is bilateral pachygyria involving the parietal region extending into the operculum bilaterally. The ventricles are small. No masses are identified.

File Keyword: Epilepsy, multifocal epilepsy/ generalized epilepsy/ cortical heterotopias / perisylvian syndrome (changed) (7/1/05)


Walsh Laboratory

Adria Bodell with Walsh Laboratory said this was a fluke of nature and no matter what I had done during Corey’s pregnancy would not have caused this brain malformation. The malformation occurred within the first 3 months of Corey being conceived. This is also not going to spread into any other organs such as his heart. It is unknown if this will affect my daughter’s children unless we have genetic testing done on Corey.

It was also wonderful to find out that Corey will not die by age 20, which was found on the Lissencephaly sites. This is a very mild variant and he can have a long life. Walsh Laboratories also discovered a family in Turkey in September of 2006 with Pachygyria and DNA is being requested at this time for genetic testing. It can take years or months to find the chromosome link and more answers. There is hope and it is being researched currently.

Research Report for Neuroimaging in Walsh Lab

Research Interpretation: Moderate bilateral pachygyria, posterior > anterior

Specific Findings:

Cerebral cortex: The gyri are too broad in many places, moreso over the posterior halves of both hemispheres compared to the anterior halves and the cortical thickness is increased in the broad gyri as well.

Ventricles: Normal

Gray matter heterotopia? No

Corpus callosum: Normal (“divot” in posterior body, probably within range of normal)

White matter: Normal, with some prominent Virchow-Robin spaces

Cerebellum: Enlarged cisterna magna; slightly hypoplastic left cerebellar hemisphere

Brain stem: Normal

Comments: Posterior > anterior bilateral pachygyria consistent with LISI mutation.


Visit Walsh laboratory for information on the conditions they research at

You may also send your MRI to Walsh Labs for a free diagnosis. We did both Dr. Dobyns and Dr. Walsh and they both came back with the same diagnosis.

Contact Information
Christopher A. Walsh, MD, PhD  (Check to see if this info is current)
77 Ave. Louis Pasteur
Boston, MA 02115
Phone: 617-667-0813
Fax: 617-667-0815