Brain lesions and uveitis, everything is coming up negative
I've (M25) been going to the doctor for the past year or so dealing with trying to figure out what's going on with me and I cant get another appointment for 6 months so any outside help is appreciated.
## Symptoms:
- Recurrent active bilateral intermediate uveitis with right posterior synechiae, vitreous cells/snowbanks, trace right macular edema and bilateral central/inferior peripheral leakage on fluorescein angiography despite Pred Forte twice daily.
- A cerebral MRI found multiple small bilateral supratentorial white-matter lesions, including one involving the corpus callosum, plus one left cerebellar lesion. The radiologist described a pattern meeting radiologic dissemination in space, without contrast enhancement.
- Chronic fatigue (intensity fluctuates day by day, but its nearly every day now).
- Chronic lower back, middle back, neck, and shoulder stiffness and pains (pain fluctuates day by day).
- Recurrent migraines (sometimes they cluster and other times I go weeks without them).
- Bilateral Hoffmann signs, brisk knee/ankle reflexes, exhaustible ankle clonus, and elbow hypermobility.
- Joint stiffness and pain in fingers, elbows, heels, ankles, and occasionally costochondritis (fluctuates day by day).
- Neck-tongue syndrome? Possibly? Nobody has been able to explain why a couple times a year when I turn my head suddenly, I feel a big painful popping sensation along with tingling in my tongue for a moment until it fades away.
## Ruled out:
- Sarcoidosis: ACE was elevated once, but normal another time alongside sIL-2R/sCD25 level. Chest X-ray and CT found no significant pulmonary nodules or parenchymal abnormality, no significant adenopathy, and no other significant thoracic finding.
- Spondyloarthirits: HLA-B27 negative, sacroiliac MRI showed preserved joint spaces without edema, and examination did not show sacroiliac findings or arthritis.
- Infection: HIV, HTLV, syphilis, TB (IGRA), CMV, toxoplasma, toxocara, and Lyme were negative. B. henselae igG reactive at 1:320 with IgM non-reactive but a follow-up CLIA showed both IgG and IgM negative.
- Rheumatologic disease: ANA/FAN, ENA, and rheumatoid factor were negative/normal, and examination showed no arthritis or connective-tissue-disease stigmata.
- Multiple Sclerosis: No spinal-cord lesions, no CSF oligoclonal bands, normal CSF cytology and core parameters, and negative serum/CSF anti-MOG and anti-AQP4 antibodies. Lesions meet DIS but morphology is abnormal, millimetric spots.
## Family history:
- Sibling: Brain lesions found at age 31 during evaluation of dysphagia and arm/hand/face neuropathy. MS, Lupus, Wilson's, Lyme, and Syphilis were ruled out. Takes Nortriptyline for symptoms. Neurologist raised possible CADASIL, but genetic testing has not been performed and no clear diagnosis was reached.
- Father: Hypertension, heart defect, kidney stones, and clear-cell renal carcinoma.
- Mother: Glaucoma and migraine.
- Maternal grandmother: Diabetes.
- Paternal grandmother: Skin cancer and migraine.
- Paternal uncle: Parkinson disease.
- Maternal uncle: Skin cancer.
- Extended family: Rheumatoid and Psoriatic arthritis.
I'm unclear at this moment if I need to keep testing, if I should get the uveitis treated (or if it would interfere with the neurology treatment), if these lesions are stable or if I need to worry about progressive diseases and getting tested/treated as soon as possible. I asked if the lesions could be from the migraines but they said at my age its unlikely that it would cause so many and the location of them is atypical.
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