Neurological symptoms w/ out diagnosis.

[buggin22]

All,
  I am a 30 year old male w/ strange symptoms, seemingly neurological, since the beginning of 2008.  (Age 25)  All work-ups have been at a major, well-known university hospital.  My initial symptoms involved muscle weakness, fatigue, and photophobia.  Muscle weakness wasn't seen on physical.  Work-up included brain MRI, blood work, opthamology exam.  All were normal, except ANA which was 1:640.  ANA normal since this time on all tests.

These symptoms continued through the end of 2009, where I had a sudden change.  Weakness seemed to progress, and my ankle/knee/elbow on my right side felt weaker than my left.  Right side has always been my strongest, right-handed.  Began to experience some 'loss of sensation' in my right fingers and foot.  Repeat brain MRI, normal.  Blood test showed low testosterone, which resolved itself.  Symptoms mentioned above scaled back a bit as months went on, but never went away.

Re-examined this year - new symptoms begun to develop, such as periodic swallowing difficulty (placed on omeprazole, which has helped), few brief (few days of) episodes of speech 'issues' (felt like I had a fat lip and it was in the way when I spoke), continued weakness.  Borderline positive for MG per AchR blocking/binding - single fiber EMG was negative.

Cervical, thoracic, lumbar, brain/brainstem MRI conducted.  All were 'normal', per my neurologist.  However, I requested brain MRI and read that it showed 'few nonspecific foci of T2 prolongation along juxtacortical white matter of left parietal lobe.' No hypothetical diagnosis given from radiology.  Neurologist said this was no cause for alarm, as they were 'microscopic' and 'not specific for anything, including MS'. At my pressing, I was given a lumbar puncture, where all results again came back within range and normal.  MRA testing is next step.

Symptoms seem MS-related, but my neurologist strongly believes this is not the case, given the normal results on CSF, spine, etc. Thoughts?

[Dr. Kokil Mathur]

Hi!
I can understand your concerns, especially since all tests have been coming back normal. Diagnosis of MS is very difficult at times as CSF studies (demonstration of inflammation and oligoclonal bands) are positive in 80-85% of patients only. Also, MRI is positive for MS plaques in about 90% of the patients.

So about 10-20% of the patients can be diagnosed only the basis of symptoms (abnormal sensations, tingling, numbness etc in different parts of body, visual symptoms, difficulty in swallowing, fatigue, bladder and bowel abnormalities to name a few). In these patients evoked potential studies may help in diagnosis. So, this possibility and the benefit of doing evoked potential studies in your case should be explored with your doctor.

The next thing which may help is redoing testosterone. Since it dipped once and resolved, it may have dipped again. You do mention a lot of blood tests—was serum electrolytes done? If not, then this should be done as abnormal sodium, potassium, magnesium, calcium levels cause symptoms similar to the ones you are having.

Another possibility is vasculitis or inflammation of blood vessels. Diagnosis is by demonstrating increased erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), antineutrophil cytoplasmic antibody (ANCA) levels, white blood cell count and eosinophils. Please discuss this possibility with your doctor.

Hope this information helps in the diagnosis of your condition and you get well soon! Good Luck and take care!

[buggin22]

Last comment from me - get tingling in feet when anxious, I am diagnosed with anxiety and have been on Lexapro (past tense), and episodic Xanax for overwhelming attacks.

[buggin22]

In addition - neurologic physical shows nothing abnormal.  Vitamin D and B12 are within range.  Episodic double vision has occurred as well, with vertical diplopia.  However, this has been extremely mild, and barely noticeable.  Not able to correlate as to why and when it occurs.