Thursday, June 18, 2009

Diagnosing Agenesis Corpus Callosum

This is a brain with a normal corpus callosum.

This is a brain missing the corpus callosum.
Also referred to as:
Agenesis of the Corpus Callosum.

This is a doctor examining the results of
the MRI or CT scan.

This is a doctor reading the patient's medical
report wherein it clearly states: Agenesis of the
Corpus Callosum.

This is a doctor giving the patient the diagnosis
of Agenesis of the Corpus Callosum as revealed
in the medical reports from the patient's MRI
or CT scan and explaining the diagnosis.

This is the typical order in which a patient
would find out that they have Agenesis of
the Corpus Callosum or partial agenesis
of the corpus callosum. This is the typical
practice of many many wonderful doctors who
are aware of corpus callosum disorders, who
diagnose Agenesis of the Corpus Callosum
and tell their patients the diagnosis, explain
the diagnosis to their patients and help their
patients receive any necessary medical attention
from specialists that they may need.

This is NOT, however, the typical procedure
of practice for some doctors even today as
I recently found out in the past week from
several adults.

Adult Patient #1: Was hospitalized due to
complications of strep throat. Neurologist
told patient diagnosis of agenesis of the
corpus callosum and proceeded to tell patient
"There is nothing to worry about it doesn't
affect you." The patient was shocked.
Patient said the doctor didn't even acknowledge
the fact that patient has a learning disability
or that patient was born with a midline defect.

Adult Patient #2: Went to get a copy of the
medical report from the CT scan. Read the
report and discovered it said agenesis of
the corpus callosum. Patient was not given
diagnosis from a medical doctor and would not
have known had patient not got a copy of the
medical report and read it. Patient has had
hydrocephalus since birth and was shunted at
two days old.

Adult Patient #3: Recently picked up copies
of medical reports from previous CT/MRI scans
in 2006 and 2008 and read it in the medical report
for the first time. Patient also has hydrocephalus.
Patient was not ever informed of the diagnosis
of agenesis of the corpus callosum from a medical
doctor and would not have known had patient not
picked up a copy of the medical report and read
it in the medical report.

This is disturbing news to learn. My heart
goes out to the patients who were not even
given the courtesy of receiving a diagnosis
of Agenesis of the Corpus Callosum when it was
clearly written in their medical reports.

On top of that they did not receive an explanation
about what Agenesis of the Corpus Callosum means
or what to expect. They are learning now for the
first time that many of the symptoms that they
have lived with during their life are due to
having Agenesis of the Corpus Callosum.

Something is very wrong with this picture.

It is VERY evident that awareness of agenesis
of the corpus callosum and disorders of the
corpus callosum needs to begin in the medical
. No more patients should wander in the
dark and find out the diagnosis of Agenesis of
the Corpus Callosum accidentally when they pick
up a medical report and read it for themselves.

No more patients should be in the hospital
and be told not to worry because Agenesis of
the Corpus Callosum won't affect you when it
has already affected them in a variety of ways
through learning disabilities, midline defects,
hearing impairment and various other symptoms.

Over the years I have written with some parents
who also were NOT given the diagnosis of
Agenesis of the Corpus Callosum for their
child and they also only found out through
reading it in a medical report they got

I have also written with some parents who were
given the diagnosis of Agenesis of the Corpus
Callosum for their child but were told by the
doctor not to worry about it and were sent home
with no other explanation or testing for other
possible conditions or problems.

I cannot easily let go of the fact that so many
patients and parents of little ones are NOT told
the diagnosis of Agenesis of the Corpus Callosum
or a corpus callosum disorder when it is right
there in a medical report. I believe it is a
doctor's duty to reveal the findings of any
medical test to their patient.

I realize that there are many wonderful doctors
who treat their patients with respect and inform
them of both their diagnosis and findings on an
MRI and CT scan as well as help educate their
patients of the diagnosis and make sure that their
patient receives additional care from any
appropriate specialists that the patient may
need to see. I am very thankful for doctors
like this. My own child with ACC has wonderful

But there are also doctors who, for whatever
reason, are fully aware that their patient is
missing the corpus callosum or partially missing
the corpus callosum and they are failing to inform
them. They are also failing to research and
understand what Agenesis of the Corpus Callosum is
and then inform their patients. This is NOT right
and should not be happening!

I wonder if the doctor would make the same choice
if Agenesis of the Corpus Callosum was written
in their patient's medical report and not explore
it more thoroughly or give the patient the diagnosis
if the patient were their own child, their own sister,
brother, father, mother, spouse...hmmmm?

Diagnosing Disorders of the Corpus Callosum


  1. When my child had her first CT/MRI at 5 months old, the doctor never told us about her partial ACC, colpocephaly, or chiari 1;
    just referred us to the Neurosurgeon for a shunt and never went over the rest of the results. I asked for a hard copy of the MRI which noted finding that said absence of rostrum, splenium, and posterior aspect of the corpus callosum, thinning of the genu was present. At that time, I started researching the terms to figure out what they meant. I found this wonderful group (ACC-Listserv-ACC Network) after my research and they have helped tremendously. I verified my finding when we saw the Neurosurgeon for the first time.

  2. We had that same experience with my child's Septo-Optic Dysplasia (SOD) -He never had a full endocrine workup till he was 9 because our (now former, for obvious reasons) opthalmologist did not bother to mention that he had SOD. Later I actually read the MRI reports and learned they had not been able to even find a septum pellucidum.

  3. I don't think doctors due this out of callousness or negligence. I think there need to be talks between doctors and patients of rare brain disorders to make the understanding of each other so much more clear. Patients and parents do read the results of medical test and do find out about these unmentioned diagnoses. They also have access to google where they do not necessarily understand the medical jargon that explains it. So we read how we or our children MIGHT be affected and lose hours, months sometimes of sleep trying to figure out worst and best and all the in between case scenarios. We grow angry at our doctors for not explaining anything to us and feel like they're hiding things or just don't care and this drives and even bigger wedge in the relationship. Doctors can't put patients through medical school in an office visit but they could collect relavent information and discuss it or create documents that explain it in laymen's terms for patients to take home and read...and then offer to take calls or emails to answer any questions we may have. The brain is always going to affect everything we are and will ever be and having a rare disorder in that area justifiably creates a world of questions and fears and doctors can attempt to lesson that burden. I'm starting to think that a whole new profession could spring up of medical counselors in the offices and hospitals where rare conditions are diagnosed.

  4. That is how I learned about my son's many reports. When his ophthamologist reported Cortical Visual Impairment I was told simply myopia that would improve with glasses. When his neurologist reported absence of the septum pellucidum, hypoplasia of the corpus callosum, bilateral middle cranial arachnoid cysts, etc, I was told about an abnormality in the way the two sides communicate with each other that many people have and never know about because it doesn't effect them. When I switched to a new pediatrician and picked up his records I wasn't prepared for what was in that file. I would stay up for days in a row on the computer trying to figure it all out. It was excruciating. I was under the impression that he had a few bumps in the road but was developing normally and would be caught up in no time & I really wish I had been given more information or pointed in the right direction to find it myself. I really think the medical counselors idea is a necessary (and great) idea! I think they should train parents of special needs kiddos for the job because who could be more understanding? However it happens, education on rare conditions needs to be taking place because letting parents figure it out themselves is simply wrong and potentially traumatizing. I wish I hadn't lost those months of my son's babyhood coming to terms with my worst fears on my own.

  5. This article hit home with me! My daughter, who is 28 now, was 11 years old when she had her first MRI due to problems she was having in school. I was only told of her having enlarged ventricles, and that was all that was in the report. The doctor told me to bring her back in a year for a follow-up MRI. This is when I found out that she only had a small portion of her corpus callosum. However, the doctor did not show me or explain to me what a corpus callosum was! I remember walking out to pay my bill, when I looked down and read "brain defect" on her billing paperwork. The air was knocked out of me! I spent a good part of six years, trying to figure out what I was dealing with. At this time, we did not have the internet. The library helped me find the ACC Network, and I was thrilled! Through the years of meeting various doctors, they either get really excited and interested about her diagnosis, usually due to an interest of neurology, or they say what you expressed, that there's nothing to worry about it shouldn't really affect her life. This always astonishes me! Everyday of her life she is affected by her diagnosis. She's had at least five MRI's throughout the years, and I went back years after her diagnosis and read them all again. I discovered that the first one never mentioned her ACC, and one film was obviously read backwards due to the description of her corpus callosum. It said she only had part of the splenium (back portion) of her corpus callosum. It amazes me that these mistakes were never caught or were ignored. I might add that because of the doctors' comments, I was leary of filing for SSI for her. I finally did two years ago, and she received it with no problem. So, I do encourage parents to file when their children are 19 if they can't sooner.


I am very interested in reading your comments and
look forward to hearing from you. Thank you.