Unknown etiology

[RobbyK]

Here is a quick synopsis of sx history: DEC98-loss of lower peripheral vision, optic pallor, pappilladema rt eye(OD) - dx Optic Neuritis (later vacated)-tx wait and see; MAR99-altitudinal visual field loss(VFL), eye pain, optic pallor OD-tx 2.5 weeks oral steroids (20mg daily); JUN99-5% increasing to 85% VFL left eye(OS) in 3 week period, 15% VFL upper peripheral OD, weakness/fatigue-dx severe anemia and AION-tx 2 units whole blood, 4 days IV and 3 months oral steroids 40mg daily, steroid support meds, iron tablets-tests extensive blood work (anemia otherwise normal), CT scan & 2 MRIs (brain and orbits)(all normal), LP(opening pressure(OP) 220), bone marrow biopsy(leukoerythroblastic smears(later cleared)); MAR00-VFL progressed from steroid-restored level(altitudinal loss both eyes, severe optic pallor,no cupping, 30% scotoma central and upper OS) by 35% OS & 15% OD, weakness/fatigue, muscle & joint pain, fasciculations-dx optic atrophy unknown etiology & anemia-tx 3 day IV and 3 week oral steroids 60mg daily, iron-tests LHON mitochondrial screen, MRI, and redux of blood work(normal);FEB01-VFL progressed from steroid-restored level(<10% increased VFL from previous level) by about 30% OS & 20% OD, increase of previous sx, balance problems-dx optic atrophy(AION vs ON), anemia cleared-tx Avonex (empirical prescription by Neuro) for 6 months-tests LP(OP 221); JUL01-no progression VFL, cognitive problems(subcortical), tremors, myoclonus, and previous sx-dx optic atrophy unknown neuro-tx halt Avonex-tests neuro-psych, vestibular, VEP, LP(OP 90). Wish for any ideas you might have.

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

I'm sorry to hear about your visual problems and consequent symptoms. I cannot give you an accurate diagnosis as I have not personally looked at your extensive imaging and lab work up nor have I examined you (especially your eyes). From the description of your symptoms, I can tell you that altitudinal defects are more characteristic of AION as your docs had been expecting rather than optic neuritis, although nothing in medicine is 100%. There are two types of AION, arteritis (inflammation of the blood vessels to and around the eye) and non arteritis. The arteritic type can be treated with the steroids whereas the nonarteritic type does not respond to tx, but usually abates on its own. I'm surprised there was no biopsy done on your temporal artery to rule out temporal arteritis. A sed rate (blood test)should also have been done, and if elevated would point to arteritic AION.

Your lumbar punctures show pressures that are slightly high. Up to 200mmH20 is normal unless you are obese and then we give to 250. Special studies should have been sent to look for inflammation, which would help point you in the direction of optic neuritis and subsequently MS. The mRI should have been done with gadolinium (dye) and also included the arteries.

LHON should only be though of if you're a relatively young man. Your case doesn't sound like the typical presentation, but I can't tell you that you definitely don't have that.

WHat you may need is a fresh look. It sounds like you've had the shotgun approach in that several treatments have been tried without a tried and true diagnosis. I would consider seeing a neuro-ophthalmologist who is a specialist in both neuro and ophtho. ALso, I would strongly recommend an academic institution for your workup if you have one nearby.

The last thing that hasn't been mentioned is (though quite a long shot) a disease called Devic's disease which is kind of like MS. It is characterized by optic atrophy in both eyes with demyelination in the spinal cord rather than brain. Perhaps it may be something to look into. Best of luck.

[RobbyK]

Further info: currently 42yo caucasion male active duty Navy; Initial VFL within 2 hours of Anthrax Vaccine initial vaccination; Weakness/fatigue atributed to anemia/out of shape; balance problems attributed to lack of consistent visual fix(confirmed by vestibular testing); fasciculations and pain attributed to steroid side effects; Only objective sx prior to Avonex was progressive optic atrophy amelioratable by steroids; FEB01 anemia cleared, started Avonex; MAR01 small aplitude action tremors right arm progressing to action and resting; MAY01 bilateral tremors resting and action(worse in rt); JUN01 neuro-psych testing revealed cognitive problems NOS (borderline subcortical dementia(white matter problems only)), myoclonus (rt wrist flex); JUL01 minor gait problem(walking on knife edge of rt foot), mild infrequent chorea, spasticity hands bilateral(worse in rt); AUG01 discontinued Avonex, sx lessened but still present; weakness and cognitive problems continue to progress, possible mild progression of VFL since off Avonex.
Confused because all research points to progression from lower extremities, my progression is from top down. Have seen Neuro-opthalmology, Neurology, Rheumatology, Hematology, Genetics, Psychology, Orthopedics and allergist.  
VFL dx is Optic Atrophy (progressive NAION vs ON), no dx for neuro-muscular sx, flouroscopic LP determined mild ortho-arthritis in lumbar region.
Currently slightly obese (27% body fat), mild hypertension (140/90), and borderline cholesterol (210), meds: HCTZ & ZANTAC & ZOCOR & non-prescription analgesics.
Request research directions and any possible points of contact on net or San Diego CA area.

[RobbyK]

Further history:

Monday evening at approximately 1930 PST, suffered a severe lumbar spasm (visual lightning strike, shooting pain,being floored...the whole nine yards).  Spasms continued and postural deflection was in Quasimodo range.  Treated nest day at military sick call with valium, spiked vicadin, and motrin 600mg 1-2 every 4 hours as needed and 72 hours bed rest with followup after 48 hours.  Was taking only one each of meds every 4 hours, effect was minimal.  Followup suggested max suggested dosage and I complied.  Subsequent to meds, have passed out 3 times bathing, twice while eating, and more than 4 times while reading / watching TV.  While under influence of meds pain is decreased and posture improved (but cognitive procesing is slowed and easily distractable), but interruption of regimen, such as sleeping, allows return of spasms.
And lastly, either due to the pain/meds decreasing avaliable concentration, tremors, clonus, and gait difficaulties are harder to compensate for.

Thank you for your time.

Respectfully,
ET1(SW/AW/CC) Robby S. Klotz

[RobbyK]

I'm opening this up to anyone on this forum.  As active duty military, I am limited to military medicine (a possible oxymoron) unless paid out-of pocket by myself.  I am currently stationed in San Diego Ca and welcome any points of contact that you may know.

Please help if you can.

Thank You

Very Respectfully,
Rob