Dr. Sherr talks about ACC





Dr. Elliott Sherr is a Pediatric Neurologist at

University of California, San Francisco (UCSF).

Dr. Sherr is highly knowledgeable and an expert

on Agenesis of the Corpus Callosum. He sees many

patients, children, who have ACC and Dr. Sherr

is highly respected and well-liked by parents.

Dr. Sherr is on the Board of the National

Organization for Disorders of the Corpus Callosum

(NODCC) and he speaks at the annual Conferences.



Dr. Elliott Sherr is also involved in a very large

Brain Development Research Study on ACC
.



I want to bring to your attention some excellent

resources that provide Dr. Sherr's knowledge

about agenesis of the corpus callosum. More

specifically:



At the 2004 NODCC Conference, Dr. Sherr gave

two presentations about Agenesis of the Corpus

Callosum. They are available as Conference

handouts [in outline form] to read below.



2004 Conference handout titled:

"ACC and Associated Features".



2004 Conference handout titled:

"How to Get the Most From Your Neurologist Visit".



In addition, both of the 2004 Conference Presentations

by Dr. Sherr, in their entirety, have been combined into

one DVD for viewing titled:



"Neurologic Issues in Disorders of the Corpus Callosum".

You can purchase the DVD from the NODCC store.



I own a copy of the DVD
(recently purchased) and find

it to be very informative. My son, Matthew, who has

complete Agenesis of the Corpus Callosum was diagnosed

at four months and he is 17 years old.



The 2004 Conference DVD is divided into two separate

Presentations:



"How to Get the Most Out of the Visit/Relationship

with Your Neurologist"



and



"Agenesis of the Corpus Callosum and

Associated Features"



A
few of the topics and information covered in

the "How to Get the Most Out of the Visit/

Relationship with Your Neurologist"
1st episode

of the DVD include:



Dr. Sherr says:




"I just want to say one thing: that there

are a lot of syndromes that are sometimes

associated with ACC where ACC is not

necessarily the principal issue. And that

doesn't mean that your child's not going to

have ACC related issues but it's important

to recognize that there's probably a lot

going on and ACC is a piece of that as

opposed to the primary driver of the issue."



Dr. Elliott Sherr was involved in an ACC Review

titled: "Agenesis of the corpus callosum: genetic,

developmental and functional aspects of

connectivity".



Genetic Syndromes occasionally and frequently

seen with ACC
can be found on Page 8.



CHILD NEUROLOGISTS:



Dr. Sherr states that they should be board

certified in child neurology.



ADVICE REGARDING MRI FILMS:



He says:




"You should have the copy of the films with

you and in today's day and age you can have

a copy on CD. You can also, if you want,

have a film copy as well." (for yourself).



Dr. Sherr talks about asking for a film

copy of the MRI for you to have. Then you

are able to take the MRI film copy with

you to doctors and specialists that your

child sees.



Also discussed on the DVD:



What Type of ACC is this?



complete ACC

partial ACC-hypogenesis/dysgenesis

thin corpus callosum-hypoplasia



What are the associated CNS changes?

CNS = Central Nervous System

(in other words) - Dr. Sherr says:




"When you look at the MRI what other things

are there that can be seen?"



Is the MRI interpretation accurate?



Dr. Sherr says:




"I will tell you...so you know we're doing

research in my group on ACC and so we've had

families from around the country send us their

films and I can tell you that the accuracy...

the families always send us the films and

frequently the radiology report is included

in there."...



"for somebody who is not used to looking at

brains of children on MRI they're more likely to

make that mistake because they just don't have

the experience of looking at them. So the

people that I work with have probably looked

at in excess of 10,000 brain MRI's on children

and so they have a fairly strong wealth of

knowledge about what is what, what is normal,

what is abnormal and if it's abnormal, what is it,

and that is actually very important. And so when

we got the films--we've gotten over 100 set of

films--and I'll tell you that about 5 to 10% of

them were completely wrong"...



"Even the best radiologists are going to make

mistakes."



"So how do you address that?"



Neuroradiologist and

Pediatric Neuroradiologist



"Who's reading the film? Is it a Neuroradiologist?



So there are Radiologists, people who are board

certified in radiology, but then there are people

who do an extra two years of additional training

and all they look at are images of the brain and

the spine and the nerve roots throughout the body

so they're more likely to be experts in reading

brains."



"And then there's another level. It's not

a level that you can get a little certificate for

but there is another level of specialization where

they're Pediatric Neuroradiologists, where all they

do all day long is look at MRI's and other imaging

modalities of kids' brains and kids' spines and the

reason that's important is that the developing brain

looks a lot different on MRI than the mature brain.

There's a lot that's going on obviously inside of

your child's head when they're developing and that

is actually seen to some degree when you take

pictures. when you take this MRI and somebody who

is an expert in that knows about what a brain is

supposed to look like at 3 months and how it's

supposed to look at 3 years, cuz those are very,

very different. And how you interpret the results

is based on your knowledge of knowing how the brain

looks as it progresses during development. So this

would definitely be one of those cases where if

only a local radiologist has looked at it, you

should request that the MRI be reviewed by a Pediatric

Neuroradiologist. And there are ways to have your

local doctor send the films to another radiologist

[Pediatric Neuroradiologist] for a second opinion

and I would pursue those."



Dr. Sherr says:




"Have your Neurologist show you the films and go

over the films with your Neurologist."



He says to question the Neurologist about the

indecipherable terms on the MRI report and have

them explain each finding to you.



MRI's in Children



Dr. Sherr says:




"There are certain things that we can see at

3 years we can't see at 3 months and so if your

child's first scan was at 3 months of age I

would recommend getting a second scan when

they're 3 or 4 years of age."



He provides more detail about this topic on

the DVD.



Preliminary Findings of ACC:

White Matter



Dr. Sherr states:




"Is there a correlation between what we see on

their MRI and how they're doing clinically?"

We did find something preliminarily. We found

that the clinical score correlates with the

amount of white matter and white matter is

insulation in the brain."



"So the more insulation [white matter] that

you're missing the more severe your clinical

condition was. And if the brainstem was

involved that was also correlating with

severity."



Dr. Sherr further states:




"Knowing more about the MRI is going to

provide you additional information about how

your child is likely to do. And I say likely

because this is just a rough correlation. It's

not a guideline. It's not an absolute-ism."



MRIs and ACC



Dr. Sherr says:




"Everybody should have one MRI at diagnosis

and, unless the diagnosis was made later in

life, should have a second MRI."



The DVD includes many other topics and

information about ACC.



At the end of the DVD Dr. Sherr took

questions from the audience. One

question was:




"Why do some people who have ACC function

fairly normally and live a relatively

normal adult life?"



Dr. Sherr replies:




"Some of that might have to do with other

places that fibers cross...so there's

something called the anterior commissure

and it's a place that fibers cross and it's

in front of and a little down from where the

corpus callosum is."







"And actually when we reviewed some people with ACC

we noticed that they had big anterior commissures,

suggesting that maybe fibers that should have gone

through the corpus callosum crossed through there.

So that's one possible explanation."



note:
Anterior commissure. Small band of approximately

50,000 axons that connects the cerebral hemispheres. The

anterior commissure connects the temporal lobes and is

located at the base of the fornix.





A
few of the topics and information covered in the

"Agenesis of the Corpus Callosum and Associated

Features"
2nd episode of the DVD include:



MRI features that can be associated with ACC:



*COLPOCEPHALY:



"This is a posterior enlargement

of the lateral ventricles that results from the

absence of the corpus callosum."



"Similar phenomenom is the 'steer-horn' shaped

lateral ventricles seen more anteriorly."



*UPWARD DISPLACEMENT OF LATERAL VENTRICLES



Dr. Sherr says:




"The first two [colpocephaly and upward

displacement of lateral ventricles] are

almost always seen with ACC...not always

but almost always...and it's just what

happens to the brain in the absence of

the corpus callosum."



"So it's not a separate diagnosis

all by itself. It [colpocephaly]

is intrinsic to the diagnosis of

ACC."



He also states:




"So it's like if you're building a building

and you take out scaffolding in one of the

main areas of the building then the

building's going to look different. It's

going to have support structures in

different places and so that's what's happening

to the brain."



"But it's not a separate diagnosis. It's

just what happens when the scaffolding,

which is the corpus callosum in a way, is

missing. The ventricle's going to bulge out."



"So colpocephaly and what radiologists

call steer-horn shape ventricles are a

consequence of the absence of the corpus

callosum."



*PROBST BUNDLES



The corpus callosum is made up of 200 million

axons (also referred to as fibers).



Dr. Sherr says:



"Axons are like the telephone wires that are

connecting all the phones together and they are

these wires and they go from one side of the brain

and they cross over to the other side of the brain.

And if they cross over to the other side of the brain

then the corpus callosum is formed and if they don't,

then where are they going to go...



So in certain individuals those fibers go to the middle,

they can't cross, presumably because the structure that

needs to be made in development, (what's called a callosal

sling) is not there and so instead they turn to the left

or they turn to the right and they go alongside the edge

of the callosum (or where the callosum would have been)

and form the Probst bundles. And it's unclear what this

means.



Some people think that if you have Probst bundles that

it correlates with a better diagnosis [outcome]. We

don't know that yet but that's hopefully one of the

things we'll be able to answer more definitively."



Dr. Sherr (in the DVD) goes on to point out visually

on an MRI image where the Probst bundles are.



He then says:



"Not everybody with ACC has Probst bundles but a lot

of people do have Probst bundles but we don't know the

significance of that yet."



*INTERHEMISPHERIC CYSTS:

*a. type 1 - communicate with ventricles

*b. type 2 - not communicate with ventricles

*c. continuum with lipoma



Dr. Sherr says:




"These cysts are fluid filled structures outside

of the brain matter proper."



"So actually when the brain is formed there

actually is a space between the two hemispheres

so it's not within the brain proper...it's sort

of like in between the two sides."



"And the current thinking is that cysts develop

in lieu of the corpus callosum."



*LIPOMA:



Dr. Sherr says:




"One thing that happens instead of a cyst

forming is that a little structure, that's

basically a fat collection, which is called

a lipoma, will form instead.



ACC Brain Images



In the DVD, Dr. Sherr also speaks in detail

about other brain anomalies seen with ACC.



Dr. Sherr said:




"If you just look at the number of people who

have just ACC and nothing else that's a smaller

percentage than the total, so most kids with

ACC are going to have ACC and something else."



Dr. Sherr explains the different views of

the brain on MRI films and shows examples.



Dr. Elliott Sherr advises:



"When you get an MRI scan you need people to do

Axial, Coronal and Sagittal views to get a true

picture of the structure of the brain."




Also discussed:



Can My Child Have ACC and:



Autism

Attention Deficit Hyperactivity Disorder

Obsessive Compulsive Disorder

Cerebral Palsy

Mental Retardation



Dr. Sherr says:




"The short answer is yes."



However, in the DVD he goes on to answer

in more detail.



ACC Syndromes with Molecular Genetic

Testing:



Dr. Sherr says:




"So these are examples where the gene is known

and it causes ACC."



Andermann Syndrome

Mowat-Wilson

ARX related syndromes

L1CAM



He also says that in his experience they are

very uncommon causes of ACC.



The DVD covers a lot more topics and

information about ACC.



At the end of the Presentation Dr. Sherr

took questions from the audience.



(a few of the questions are):



Question:




"Is it acceptable to request a typed up

copy, in layman's terms, of what the MRI

interpretation is?"



Dr. Sherr replies:




"The answer is absolutely yes."



Question:



"Symptoms that might trigger you to get

another MRI?"



Dr. Sherr replies:




"I think that the symptoms that would trigger

somebody to get another MRI down the road

would be a significant worsening. So if a child

is developing at his or her own rate and then

all of a sudden they stop developing or they

decline in development, that would be a reason

to get an MRI. If there's new symptoms that

are significant and not sort of part of things

that they're already doing, you need to

potentially get another MRI, and the last one

would be something that might need to be

discussed with your doctor, depending on what

they are."



Also available from the NODCC is Dr. Sherr's

presentation at the 2008 Conference on podcast, at

no cost, which includes
some of the same information

on the DVD from the 2004 Conference plus even

more information. In my opinion, the DVD and the

2008 Conference podcast are BOTH excellent

resources about ACC.




note: The DVD from the 2004 Presentation

gives the advantage of being able to see the exact

area of the brain Dr. Sherr is talking about (because


he uses a
red
light pointer to visually point to the specific

brain structure in the picture that he is discussing).

The 2008 Conference podcast displays still frame pictures

of the brain and you only hear Dr. Sherr talking about

specific areas of the brain, but do not get to visually

see them being pointed out.




note:
you will need to download the TechSmith

Screen Capture Codec (TSCC) to view the podcast:

download here.



2008 Conference podcast with Dr. Sherr



(a few interesting highlights are):



3 family generation of complete ACC and

partial ACC in one family. Dr. Sherr discusses

one family where ACC and partial ACC is seen

in a grandfather, children and grandchildren.



seen at time frame 12:44-15:26



Dr. Sherr states:




"All of these individuals with a corpus

callosum disorder did well or average in

school and the adults have jobs. So these

are folks who are functioning at a very

high level."



ACC and Heart Defects:


seen at time frame 32:53-33:49



Dr. Sherr says:




"Almost 1/4 of the kids had heart problems.

Now these are not innocent murmurs that then

go away. These are actually kids who have real

heart disease. So my recommendation on any child

with ACC is that they get a comprehensive heart evaluation."



Colpocephaly is discussed:

seen at time frame 38:52-40:29



Dr. Sherr says:




"And so if doctors say your child has hydrocephalus

you want to be very careful to ask them, well does

the child have hydrocephalus or does he or she just

have colpocephaly?"



Interhemispheric Cysts discussion

and other ACC features


seen at time frame 43:20



Question regarding Interhemispheric Cysts:



"Do they enlarge or do they stay the same?"



seen at time frame 49:09-50:44



Dr. Sherr's answer:




"I don't think I have good enough numbers yet

but I would say that the short answer is most

don't change in size and a few will change

in size.



"If a cyst enlarges it will result in the

symptoms of hydrocephalus and so usually what

that will mean is that the child will present

with some sort of symptoms...usually it could

mean things like vomiting, particularly vomiting

when you first wake up in the morning, if a child's

eyes seem to be pointing down too much instead of

being right in the middle of the eyelids, if the

child seems to be too sleepy (lethargic) that

could also be a sign of hydrocephalus."



"So for my patients in my clinic who have an

interhemispheric cyst, when they're little I'll

get an MRI every year for the first three years

of life and if there's no growth after three years,

then I'll do one more when they're 5 years of age and

then after that I won't do anything unless they have

symptoms. But that way...I think most of the kids that

have cyst enlargements, it happens early on."



It's definitely worth exploring these valuable

ACC resources mentioned in more depth for yourself.



You can also find additional resources about ACC

(including Conference handouts, podcasts, and other

items) available at the NODCC website.



Do you want to enroll in the ACC Research Study at

UCSF where Dr. Sherr and his colleagues are involved?

Please contact: Mari Wakahiro at 415-502-8039.