From Minor to Extensive White Matter Demyelinating Disease

[adivinespirit]

Hello,

I saw my Neurologist yesterday as a follow -up to the CSF results. He said that he wants me to see a Neuroimmunologist at Thomas Jefferson Hospital in Philly becuase he does not have available to him the testing I need (PET scan, etc.). I was fortunate enough to get an appointment for June 10th with the Neuroimmunologist.

I have the lab results from the CSF as follows:
Imugen Labs
Antibody Capture Enzyme Immunoassay: B. Burgdorferi IgM <1, IgG <1, IgA <1
Dept. of Pathology at St. Francis
Glucose 56
Protein 29
Colorless and clear
WBC count, 0
RBC count 1
Segmented Neut, 0
Lymphocytes, 0
Monocytes, 0
Cryptococcal Antigen C. Neoformans AG, Not Detected
Oligoclonal Bands
Reference Range: No bands
One gamma restriction band is present in the patient's CSF but is not present in the serum control. This finding is insufficient to support a diagnosis of multiple sclerosis. No patient serum was submitted. The clinical significance of a numerical bank count, determined by Isoelectric Focusing, has not been definitively defined.

VDRL, nonreactive
AFB smear: No acid fast bacilli seen
Culture: No growth 22 days
India Ink PR: No encapsulated yeast cells seen
Fungus Culture: No growth 22 days
Fluid/Gram Stain:Few red blood cells, no bacteria seen
Culture: No growth 3 days.

So far, the only blood test that seemed hight was the C-reactive Protein at 1.26. Over the last 9 months, I have normal or high blood pressure (never had a problem before August), and at times, low thyroid, and low pituitary, but then they come back to "low normal".

Every symptom continues to get worse, and I am "worse" more than better everyday. The brain "attacks" come more often and are more severe as well.

Thanks! Cris

[adivinespirit]

Hello,

Went to the Neuroimmunologist today. Took a history, copied all my records from GP and Neuro with all the lab results from all the tests. Didn't look at the MRI's or CT films as he didn't have time during this appointment told me to bring them back at the next appointment. Sent me away with a slew of blood/urine tests.

When I asked him about the issue of the chest pain and heartbeat changes when at rest, I got the dreaded "you are just worried. You are panicing and depressed".

He also felt that I should not be concerned with the extensive change from the CT (minimal white matter disease in 8/07) to the MRI (extensive white matter disease and demyelination a few months ago), as the "extensive" may have been there in August, but the CT didn't show all of it. I am concerned about this being "degenerative" and every headache I have is me losing "myelin" . . .

I am at a loss here. I have no idea if this is Autoimmune, or Infectious Disease, or what. Where do I go from here? Do I see a Neurologist? ID Dr.? Rheumatologist? One thing I can tell you is that I don't need a Psychiatrist!

Thanks for any suggestions,
Cris

[MG (Admin)]

Well I would fully agree that the fact that the MRI showed more white matter abnormalities than the CT can be explained by the fact that an MRI is much, much better at detecting white matter abnormalities than a CT is.

You may also find it helpful to know that as the brain does not feel pain, there is absolutely no reason to think that each headache is causing further damage.

What I normally do in this situation is separate out the issues (which are very common) and deal with each separately:-

1) If you have headaches, then get a diagnosis...is it tension headache, migraine?...Perhaps a headache specialist would help.
2) If you feel you have mood issues / anxiety that bother you then this can and should be dealt with irrespective of whether you also have a neurological condition...one does not exclude the other, and if you are anxious then this does not mean that all of your symptoms are psychological!
3) In terms of the brain MRI...I would repeat it 6-12 months following the first one...if there is no change then this is a good sign, if new abnormalities have appeared then this may be a reason to start some form of treatment...but this depends on many factors which will be assessed if and when it comes to this.

Please keep us updated

[adivinespirit]

Hello again,

Spent the last month with the Neuroimmunologist. 50 bloodtests later, he is mostly concerned with my bloodpressure and cholesterol (neither of which I had problems with before I started with this illness). One test that came back positive this time from the last time it was taken was the Antinuclear antibody test 1:1280 homogeneous. Platelet count at 458, C3C 187, C2 at 4.2, and MCH at 33.5.

He then prescribed 2 Medrol Steroid packs and set an appointment for 3 weeks. He felt that I was in the 13% that have MS that don't have 2 bands and have only one band. My thought is then can't I be in whatever percentage there is of Lyme (neuro) that don't present with all of those bands either? He asked if I was sure I had no paralysis on one side at any time . . . yeah, I am sure.

Went back to my Neurologist and he tested my reflexes, looked at the bloodwork and agreed that MS was highly unlikely. He ordered a CT CNS angiogram which I completed today. He also felt that I might have to have a skin biopsy of the rash that appeared when all this started. I am also charting my fevers.

Here is a link to some of the images. I have no idea which are "good" ones for diagnosis, and in one series there were over 400 images, so hopefully I picked a good representation of what is on the disc.
http://share.shutterfly.com/action/welcome?sid=0AcuWrNu1aNmLEng

[img]circle%20of%20willis%201.jpg[/img]

[MG (Admin)]

.

[adivinespirit]

I have seen a White Matter Neuro specialist in NYC last week. He seems to agree that it is not MS, although he is not certain what it is. I just completed a brain MRI, cervical MRI, and thorasic MRI on Friday. He is also sending me to a Rheumatologist in NYC, and a local cardiologist.

I am wondering if any of the Dr.s here have seen this type of brain damage from Lupus?

The reason I ask is because thus far, my High positive results are as follows:
ANA
C-reactive protein
Platelets
Vitamin D defeciency
Anemia

I continue to have breathing, heart and head problems. I recently had a visual episode of an outline "strobe effect" that started small and expanded out of visual range in about 10 min. Vision was normal outside and inside the line shaped like a triangle and was viewed even with eyes closed. The fatigue, fevers and rash continue as well.

Could this be Lupus? Does Lupus effect the CNS this way?

Thanks!
Cris (the medical mystery)

[MG (Admin)]

Well lupus (SLE) can certainly cause brain lesions in the white matter...in fact a number of rheumatological conditions such as SLE, Sjogrens syndrome, Behcets syn, must be excluded before a diagnosis of MS can be given...the same applies to infections such as Lyme disease, and vascular (blood vessel) problems

In other words....MS is only diagnosed once other possible causes have been excluded, and there is evidence of dissemination in time (i.e. more than one separate attack) and space( more than one place inthe brain or spine)...this is why you are going to the various consults and why I recommend repeating the MRI of the brain 6 months after the last one.

Hope that clears things up and keep us updated.

[adivinespirit]

Rheumy in NYC doesn't feel it is Lupus. He did say that my bloodwork came back with my Vit. D level at 7 which is extreemly low, and my B12 was also very low. ANA is off the charts.

Went back to Neuro in NYC and brought the latest MRI films he ordered. The cervical and thorasic came back nonremarkable. The brain MRI showed a new foci in the front left lobe.

Neruo is quite baffled. He said that to look at my MRIs alone, he would say MS. However, all the other blood/systemic issues, he just can't explain, as well as the fact that I don't present as MS physically. Said he can't even treat me because the MS meds won't help what my symptoms are, even though the brain images says "MS".

I am waiting to have a VEP done at U of Penn on the 17th. Neuro also said that he may order another spinal tap since the last tap did not have the IGg testing done on it.

New symptom is "occular migraines". All of the symptoms continue and are worsening as time goes on. I will post the findings of the VEP when I get them.

Thanks, Cris

[MG (Admin)]

OK...all the best and let us know how it goes.

[adivinespirit]

Hello,

VEP came back normal. Also had a CT of chest, abdomen and pelvis, all came back normal. Neuro in NYC wants to wait for a second set of MRI's till November to see me again.

Went to University of Pennsylvania Neuro Dept, and the Dr. there fells that this is a "systemic/auto immune" issue causing CNS/Whitematter issues, versus the other way around. She recommended I see a Rheumy. Told her I had seen a Rheumy in NYC at Columbia Presbyterian, and he felt that it was a Neuro problem, since my Lupus test came back negative. She wants me to see a Rheumy at U of Penn, and I have an appointment Nov. 26th.

I am still deteriorating, and although there aren't any "new" symptoms, the ones I have are worsening on a daily basis....Any suggestions at to narrowing an auto immune cause to this bizarre case?

Thanks,
Cris

[adivinespirit]

Had MRI at Columbia Presbyterian in NYC as per Neuro request. The results are as follows:

Findings: Sagittal FLAIR images demonstrate increased signal in the undersurface of the corpus callosum with small foci of increased signal that measure up to approximately 6mm in the body. In addition, there are nodular foci of increased FLAIR signal along the lateral margins of the lateral ventricles, some of which are perpendicularly orientated, especially in the frontal periventricular white matter, suggestive of Dawson't Fingers. There are also subcortical white matter foci of FLAIR signal scattered in the bilateral frontal, temporal and parietal regions with the largest measuring approximately 9mm in the left frontal subcortical white matter.

Some of the periventricular white matter lesions demonstrate decreased T1 signal which is consistent with chronic plaques. On the mag transfer images there is a focus of increased T1 shortening in the left frontal cortes (slice 9:18), which is suggestive of a region of normal appearing white matter. On the postcontrast mag transfer images there are a focus of enhancement in the left frontal periventricular white matter which are suggestive of active demyelinating plaques.

No abnormal signal intensity is noted in the cerebellum, brainstem, or optic nerves. Diffusion weighted images show no evidence of acute or early subacute infarction. GRE sequences show no evidence of blood products.

Fluid is noted in the right sphenoid sinus. The visualized paranasal sinuses and mastoid air cells ae otherwise unremarkable.

Impression: 1. Multiple periventricular and callosal white matter leasions of different ages most likely to represent multiple sclerosis. 2. Focus of enhancement in the left frontal perventricular whitematter suggestive of active demyelinating plaque.
_________________

I don't know what is next in line as of testing, and I don't know if this is definative of MS or not. Does fevers, intent tremors, high ANA, high c-reative protein, high blood pressure, high cholesterol, low vit. D, low B-12, high platlet count fit into MS? Is all this coming on suddenly a year and a half ago also typical of MS?

Thanks for any guidence.
Cris

[drmysterydiagnosis]

Look sorry to hear that you are having these problems. I have been dealing with an undiagnoseable (?spelling and wording) similar situation with weakness in my extremities, tingling, numbness, ataxia ( I have a wierd gait that doctors cannot explain and that does not fit the current gait disturbance types). It appears to me to be similar to sensory ataxia with a steppage and stompage gait, but neurological examinations indicate that I do not have deficit in nerve transmission that is typically found in their 99% typical criteria. Unfortunately, I always seem to be in the 1% that doesn't fit the "typical" mold.

My CSF is normal each time they take it, 3 times thus far. I have had CT Myelograms, MRIs, EMGs, EEGs, VEPs, and so many other test I can't even begin to describe. I can't wait for the day when neurology comes out of the dark ages, i.e. we must introduce pain and electrical shock to determine if you can handle it. HaHa! Look, you will have to develop a since of humor or this thing will get the best of you. My neurologist recently told me that I need to accept the fact that most of my doctors think I have demyelinating disease. I have been to the best doctors and the best facilities in the country. At this time they do not know what caused it, or exactly what it is and the only thing they can do for me is treat the symptoms. Sometimes it sucks to be me. I am working on accepting the unknown and the fact that modern medicine cannot figure out the cause or the fix. I am an engineer and it is my nature to try to fix problems, so I am having to work really hard to accept the fact that I may not be fixed. I want to try to have the most full life I can, so they have taken the last CSF sample and stuck the last needle in me, unless I become paralyzed or something worse. Fortunately, I can still walk but with great difficulty.

Let me tell you what I have learned, regardless what a single physician tells you (everyone has an opinion). When your blood chemistry numbers are near the low normal range, even if they are in the normal range, your health can begin to show significant deterioration. My B-12 was around 350 ppg/ml. Articles are all over the place as to what the low level is. Some say 100 pg/ml, some say 200 pg/ml. There is currently debate among medical professionals as to what a "normal range" is. So...in reality they do not know right now. Merck Manual says that B-12 around the 350 range or less will cause significant neurological complication. You can get demyelination in the "low normal" range!!! It is important that you and your physicians understand that Merck Manual is written by several hundred Physicians, their peers, not supplement specialists. In any case I have had some improvement in my gait and other symptoms by having B-12 injections regularly. At first my neurologist said that they did not think it would help but it could not hurt, since the body excretes any B-12 not used. Guess what, it helps. I am not cured, but it does help me with my symptoms. Get your B-12 checked. It cannot hurt to get injections and B-12 is required to repair and develop the myelin sheath that protects the nerves.

I have lesions in my spinal cord that are of unexplained etiology. Can't biopsy because of position, they have enhanced in the past with the gadolinium dye, but do not as of february of this year. I have some sort of meningeal cyst on not one but 8 nerve roots in the posterior part of my spine from C6 to T2. Just found these, but the radiologist told me that they can be sources of spinal fluid leaks. I have had all the symptoms of spinal fluid leaks with orthostatic headaches, gait disturbance, nausea (without vomiting) but I take zofran and benadryl to knock out the nausea, and when I get it I have to lay down for hours.

I have had questionable focal white matter disturbance in my brain that have the doctors baffled. No explanation thus far.

I had a bout of myelitis in the cervical spine that one excellent physician explained appears to be a white matter disturbance, however, it could be myelitis or a remnant of an AVM (arteriovenous malformations). Some of the radiologists have questioned the brain white matter disturbance as demyelinating plaques, or possible avm. No physician can give me an answer.

We are currently pursuing a malnutrition course of investigation with my GI because iron and serum ferritin have been low, copper has been low and I have had anemia on and off over the last few years, I now have low vitamin D and osteoporosis. in 2007 my bones were in great shape, not even osteopenia. Why is this happening??? Well we don't know. Merck Manual seems to indicate If you are taking a proton pump inhibitor, like Nexium, talk to your doctor about an alternative course of treatment, because the medical profession is figuring out that when you shut off acid production in the stomach, B-12 is not processed correctly, Vitamin D is not processed correctly, etc. and osteoporosis can develop.

Don't think a malnutrition workup is going to show much because I had a workup in February at a leading facility in the country that "did not show any sign of malnutrition"; HOWEVER, I looked at my B-12 numbers and they are always in the range that the Merck Manual says can cause significant problems, including demyelination. So I took the Merck Manual article to my physicians and asked them to read it. That's how we began the B-12 injections.

You should not give up on pursuing an answer. I have not. Truth is that sometimes there is no answer right now. Neurology is finding new information every day. Try your best to get a diagnosis. It sounds like you are progressing rapidly and need help now. Ask your physician to refer you to the best facility and doctor in the country to get a diagnosis.

Do your homework. Get Dr. Weil's book "The Smart Patient", today, and READ IT. It could save your life. And at the very least you will learn the ropes of the medical profession. It sounds like you are on top of the game already, just stay there.

Please post a reply with your blood work results and let us know how you are doing.

[adivinespirit]

Hello Dr. Mysterydiagnosis,

Thanks so much for the post. I haven't had bloodwork done recently, but have had a brain MRI w/wo last week. All is stable since my first MRI in 2007. Here are 2 slices from that MRI. I am so sorry you too are a Mystery. I wish the medical community would take us seriously, because it is from mysteries like us that they learn about new diseases, instead of treating symptoms or just saying "we may never know". Here is an update:

My old Neuro placed me on Copaxone 1x/day because although he felt he wasn't sure of the MS diagnosis, he knew there was white matter involvement, and wanted to treat that. Copaxone is a disease modifying injectable, which only attempts to slow the disease process and does not stop nor repair damage.

My Neuro left Columbia Presbyterian Hospital in January 2012, and I began seeing a new Neuro in June. He sat down in front of me and said "You definately have MS. You definately have something else as well, but we many never know what that is." It was the first time that a Dr. agreed with me that there is something in addition to the MS (I am still on the fence about the Ms diagnosis, and wonder if the "something else" is some other disease that is affecting the white matter "like MS" because of all the non-MS symptoms that appeared with the white matter demylination).

One of my MAJOR (and I mean everyday to the point of disruption) is my head/face sweating profusely. You can literally feel the heat eminating from my head. This occurs at the most minimal of exertion and only get worse (if that is possible) if I am in a location that is warmer than 65degrees. I have had all the "standard" tests on my endocrine system (I thought perhaps Cushings) because it is clear that my homeostasis goes haywire, and am trying to figure out why/where on the Endocrine system this is causing this to happen (from the pituitary down to the adrenal glands), but no one will look past the "norm".