Advice

[Gaius Catulus]

I am a 48 year old man very thin and fit.  About a year ago I started having tingling, numbness, and weakness first in my hands and then in my feet.  No other medical problems.

My problem fluctuates and is worse after exercise and standing; better in the morning.  Pain is increasing and the soles of my feet can get quite sore.  The distribution is 'stocking and glove' and the numbness in my feet at times makes me feel as if I am walking on air.

I have had the full battery of tests with the usual negative results except for "incidental" items:  negative ANA, Sed rate, MRI cervical, thoracic.  Findings include 2 hemangiomas, elevated CSF protein, intermittently prolonged Aptt (on-and-off bruising).  EMG and NCV tests all negative.

I have had no GI symptoms, no headaches; both neurologists I have seen had said that my problem is not psychogenic but that gives me little comfort as they can't say what it is.

They have named two possibilities now, given the fluctuating course.  My question is, are they being realistic?  Should I undergo these tests?  First, one neuro says, given the fluctuating course and progressive disability) we should consider a spinal arteriovenous fistula and perform the appropriate tests (myelogram).  The other says that we should also consider Fabry's.   I find Fabry's far-fetched.

My doctors are at a big medical center.  Right now I have taken a 'wait and see' attitude but recently this has become much worse.  After standing for a long time the other day I had to spend the next day in bed -I could barely walk because of weakness/pain.

[CCF-Neuro-M.D.-JT]

Sounds like they've done all the appropriate testing (the big ones being the EMG and MRI cervical spine).  NOt quite sure about the spinal cord AV fistula given the "stocking glove pattern" and I agree with you that Fabry's is unlikely as you don't mention any history of weird rash or multiple strokes.  I wonder if a repeat EMG should be considered, especially if it's been a while since the last one. Other tests that may be considered include evoked potentials to look at the integrity of the nerve pathway from the limbs up through the spinal cord to the brain and autonomic studies to look at "small fiber" peripheral nerves.  Small fiber neuropathies can certainly cause pain, but cannot be picked up by routine EMG.  Also make sure B12 as well as methylmalonic acid, homocysteine, vitamin E and syphillis have all been checked. Finally, there is a family of demyelinating diseases that affecft the peripheral nerves called under the general term CIDP that is a possibility, although this should show up on an EMG.  Talk to yoru doctors again, and consider a second opinion if you seem to have run into a dead end. Good luck.

[Gaius Catulus]

Unfortunately, I ran out of room:  please note that drs find few objective signs of my supposed illness.  Loss of strength noted only sometimes, as are quickened reflexes, erratic heel tapping, etc.  Then these things become normal again.

I am using no drugs except aspirin.  Tried neurontin; did not like side-effects.

What shall I do?

[Gaius Catulus]

I appreciate your comments, especially in the light of the small knowledge you have of my situation.

I've had a second EMG (after 6 months):  still normal.  No autonomic studies have been suggested for small fiber stuff--what are these studies?  I can;t find any information.  As far as evoked poetntials, these also have not been suggested.

All the usual tests (B12, metylmalonic acic, homocysteine) were done with original results being borderline B12 (170< high homocysteine (17).  Been taking B12 and folate since then and recent tests are most satisfactory, although problems remain and have increased.  Syphilis tested in blood and spinal fluif (negatives).

As far as "stocking and glove" it's really stocking plus weakness of legs plus great pain in right leg plus numb fingertips, so not really a full distribution.

As far as CIDP, problem is that protein is CSF elevated, as expected, but EMGs still normal.

On Fabry's, I have some angiokeratomas (esp on scrotum) but not a lot and no strokes (although evidence of ischematic activity in brain MRI).

[graham]

Hi there, sorry to hear you have not had too much success in identifying the cause of your problems.......or have you?

You mention that your b12 level was < 170 pg/ml and that your homocysteine was elevated. I am not a doctor, so I cannot say that this is definately the source of your problems.

What I can say quite, without any doubt, is that you are definately in an area where all your symptoms could be caused by b12 deficiency. There are many medical reports which identify people suffering from neurological problems at far higher levels than yours, even above 300pg/ml. The fact that your homecysteine was elevated is again a very good indicator that this is where your problems lie.

You say that you have been taking b12 and folate and that your tests are most satisfactory. Are you being injected with b12 or are you taking it orally. Do you know what your b12 level has risen to, you want to be well out of the "grey area" of low/normal b12 level.

Has your doctor diagnosed you as being b12 deficient and if so, what reason does he give for developing a deficiency. Unlesss you are a strict vegan, then there has to be a reason which also needs addressing.

Are you in the US, I am wondering this because the lower end of normal there is 200pg/ml or slightly higher in some labs. In the UK we are well behind the rest of the world with lower end of normal being about 150pg/ml. Regardless of the lab levels, as I said before, b12 deficiency can cause serious problems well above these levels. Medical studies have identified this problem and yet a great many doctors are completely unaware.

I hope you don't mind me asking these questions, I have reasons for having a particular interest in this subject.

Best of luck
Graham

[Gaius Catulus]

Hi, Graham.  Thanks fo ryour comments.

I am taking B12 by mouth along with folate.  I don't follow what you mean by, "The fact that your homecysteine was elevated is again a very good indicator that this is where your problems lie."

Certainly, if B12 is my problem, then why is this getting worse even as the B12 has been "normal' in subsequent testing (800 or so) and methylmalonic acid is also fine?

He has not diagnosed me as being B12 deficient.  What he says is that I had borderlne B12 deficiency now under control through use of B12 and Folate.  I am not a strict Vegan and no one has given a reason for this problem.  He has suggested no co-morbidity B12 problems (i.e., B12 deficiency caused by some other underlying problem).

Yes, I am in the US.  

[graham]

Hi again, what I meant by your homecysteine being a good indicator of where your problems lie, is that if you are b12 deficient then one of the side effects of deficiency is that it can elevate either your homocysteine, your methylmalonic acid, or both.

A b12 level of 170, by US standards, is low. I have seen the lab levels of various labs in the US and the lowest end of normal was 200pg/ml (higher in some labs)

It is good that you are taking b12 and folate and that your b12 level has risen to about 800. The thing about b12 deficiency is that it is generally such a slow arising problem that very often by the time it is discovered, there is a degree of damage done that will take time to rectify with treatment. It is the case that some people often feel worse during early treatment as the body tries to rectify the damage which has occurred.

As I said previously, there are many studies which identify people with far higher b12 levels than yours who have also had neurological problems.

The problem with a serum b12 test is that it shows the level of the vitamin in the blood, the problem can be the transfer of the vitamin to the tissues. That is why a further test, serum holotranscobalamin 11 is often used to check this process.

With regard to the the reasons for deficiency, if your diet was high enough in food with b12, and you were absorbing well, you should not have a problem. There are many reasons for deficiency such as lack of a substance in the stomach called intrinsic factor (pernicious anaemia), bacterial overgrowth, lack of stomach acid, small bowel disease, pancreatic insufficiency and many others, which is why I thought it important to establish a reason.

If you want to look further into this problem I would recommend taking a look at www.braintalk.org. The peripheral neuropathy forum has some very detailed info, check Rose's b12 background information, it is always put on the first page. You could put your problem to Rose who is a real authority on this subject, I know she, and others, would be happy to give you their views and advice.

Best of luck
Graham

[azurerain]

My symptoms started out alot like yours. It now looks like cervical (C5-6) disease.

My first cervical MRI was reported as normal (1999).

Recent cervical MRI shows the C5-6 herniation. (In retrospect, the herniation was already there (smaller) in 1999 but the radiologist apparently thought it was insignificant and did not report it)

My advice: keep trying, and you may need to repeat some studies (though your doctors may treat you like you are crazy like mine have).

[Freddd]

'stocking and glove' effect is characteristic of methylB12 (methylcobalamin) deficiency. as are most of your symtoms.  It gets a lot worse for a long time, I know.  Many peolpe can test perfectly normal or even high on B12 (cyanocobalamin) and have severe B12 deficiency neuropathies up until the point of death.  The test is to try a sublingual methylB12.  If it works, then you know.  It is harmless and cheap to try.