What causes a 34-year-old male to have neurological problems, joint pain, fatigue, nausea, dizziness, headache, poor vision, and chest pain?

Hi doctor,

I am 34 years old, 166 cm in height, and 69 kg in weight. I have both neurological problems and painful joints. I am intersex (ambiguous external anatomy, female internal anatomy). I identify as a heterosexual man, and I have been married for six years to a woman, the only sexual partner I have ever had. We do not currently have children. I do not smoke, drink, or take any illicit substances. I only drink decaffeinated coffee and herbal tea; I drink water and juice but no soda. I eat a common Mediterranean diet with a lot of vegetables, also low in sodium. Before I was sick, I walked approximately 2 to 3 km most days. I work from home. We have one healthy indoor-only cat living in a suburban apartment. I have taken Testosterone 1% gel (50 mg) throughout adulthood. I have had migraines (since age 11, well-controlled without medication), Raynaud's disease (since age 15, mild), plaque psoriasis (since age 27, resistant to treatment), medication-induced fatty liver (before six years, enzymes now normal after 15 kg weight reduction), retained gadolinium contrast after MRI two years back despite normal renal function (values normalized after eight months), multiple UTIs since childhood (likely due to being intersex), varicella zoster virus (last year, primary infection was between age 1 to 4), ongoing mild dental infections; prior neck and lumbar injury from a car accident 13 years back; history of concussion (ages 2, 18, 19, 21, 24, 25, 26, and 32).

My symptoms are fatigue, worsening, and onset 4 or 5 weeks ago. I have difficulty selecting and spelling words and arranging them in a sentence, worsening — onset five weeks ago. I have severe dizziness and nausea when sitting up, reading, or doing right-handed tasks (writing, typing, eating), worsening — onset four weeks ago. Also, I have atypical dizziness and nausea with hunger, tiredness, or driving a car, worsening — onset six weeks ago. In addition, I have intermittent pressure and stabbing head pain, especially at the temples, sometimes in the jaw or the ear — onset four weeks ago. I have intermittent difficulty keeping my eyes open or changing eye position, worsening — onset three weeks ago. I have joint pain and stiffness, especially in the shoulders, elbows, knees, and hands, with variable intensity, worsening — onset five weeks ago. I have neck and mid-back pain but with a normal range of motion — onset five weeks ago. Also, I have intermittent pain in my calves, forearms, and upper arms that feels stabbing or squeezing, worsening — onset three weeks ago. I have intermittent flank or flow back and abdominal pain, worsening — onset two weeks ago. Also, I have intermittent chest pain, especially on palpation or exertion, worsening — onset three weeks ago. I have shortness of breath with mild exertion (like talking for prolonged periods or walking in a park), worsening — onset 2.5 weeks ago. I have intermittent mild Raynaud's flares (hands or feet are cold and mottled but not fully blanched) — onset four weeks ago. I have difficulty urinating (must strain muscles) — onset five days ago. Alternating constipation and diarrhea (all stools yellow or light orange-brown with mucus and undigested material) — onset five weeks ago.

Two months ago, I was diagnosed with VZV (sacral dermatome) and was given the tablet Famciclovir 500 mg three times a day for seven days. The rash healed, and the fatigue abated, but I began having an intermittent pimple-looking rash on my cheeks and forehead, which improved with steroid ointment; I was told it was dermatitis. (Note: Due to my age and the rash location, it took two weeks to get diagnosed and treated for VZV). Last month I had flank pain, irregular urine stream, and trace WBCs in urine. I was prescribed the tablet Bactrim. I took two doses of it and experienced extreme body-wide muscle pain. Then I sought urgent care. Urinalysis was normal, but creatine kinase was elevated (CK = 300 IU/L). I was told to discontinue Bactrim and drink lots of fluid due to adverse reactions. CK was rechecked three days later and declined to 100 IU/L. Urinary symptoms resolved without treatment and muscle pain abated rapidly over three days (I may have previously had two adverse reactions to Bactrim two years back that were not recognized because they involved muscle pain and not allergy symptoms).

I had a sore throat and post-nasal drip but no fever or other symptoms of illness last month. I tested negative for COVID. I then began having mild dizziness and nausea with driving, which I attributed to fatigue from a recent illness and weather changes. I also noticed some difficulty concentrating on reading, which I attributed to the same. I had three days of pale, hard stool followed by the onset of mixed pale orange-brown loose stool with mucus and undigested materials, which I attributed to the Bactrim, but it persisted six weeks later. One week later, while working on my computer, I suddenly experienced a racing heart without chest pain or other symptoms. I again attributed this to fatigue and laid down for a nap. When I awoke from my nap one hour later, the previous VZV rash area itched and burned (but no rash); the itching then occurred in other areas on both sides of my body.

I had no other symptoms, and the heart racing had stopped. I attributed this to post-VZV neuropathy but scheduled an appointment with my doctor to be sure. That night, I awoke with pain in my neck and both arms tingling. The tingling went away once I got up in the morning. The following night, I had sharp back pain (thoracic) and tingling in my legs and pelvis. The tingling went away once I got up the following morning, but I had intermittent burning on the exterior sides of both calves and both forearms, which were painful even with a light touch. I also developed severe pain in my left shoulder. There was no rash, redness, or swelling. I saw my doctor two days later when the VZV rash area was red but didn't have any lesions. They diagnosed VZV again and prescribed the same Famciclovir treatment as before. Within three days, I experienced worsening tingling and burning in my arms, legs, pelvis, face, and lips, as well as pain in multiple joints without redness or swelling. I sought urgent care; my CBC, CMP, CK, and ESR (= 3 mm/hr) were normal. I was discharged without treatment.

Over the next week, my symptoms worsened, though the redness and itching in the VZV rash were resolved. I then experienced sudden blurred vision, especially in my right eye (reduction to 20/25 vision). This is when I also noticed difficulty writing. When I wrote or tried to draw, it made me dizzy and nauseous, and my writing slanted toward the right. I was also having a bad headache and pain radiating into my tongue on the right side. I went to the emergency department. My HR was 110 bpm, and my BP was 127/84 mmHg. No fever. My CBC, CMP, CK, and D-Dimer were normal, but my ESR was higher than normal (ESR = 12 mm/hr). They took an X-ray of my back and an MRI without contrast of my brain. Both scans were normal, and I was discharged without treatment. That night, I began having clear mucus in my urine. I had also begun to have a mild cough. I followed up with primary care and ophthalmology. My vision was 20/15 in the left eye and 20/20 in the right, and they could not find a cause for my blurred or double vision. The doctor also ordered X-rays of my chest and neck, an ultrasound of my left shoulder, and an ultrasound of my temporal arteries. All of these scans returned normal. My symptoms continued to worsen over that week, but my vision improved. When my neck pain worsened again, and I began having trouble walking (two weeks ago today), I went to the emergency department. They made an MRI contrast of my cervical spine, which was normal. My CBC, CMP, CK, CRP, and ESR were all normal. My urine was cloudy but otherwise normal. My HR and BP were mildly elevated in the ED. I was discharged without treatment to await the results of ANA and ANCA testing.

My HR has been elevated at home to 100 to 115 bpm when walking (normal at rest between 60 to 85 bpm), but my BP has remained normal. My cough has worsened, and it sounds like there is wheezing from my nose and mouth, but my lungs sound clear. Last week, I received my laboratory results. Once again, CBC, CMP, CK, CRP, and ESR (= 6 mm/hr) were all normal. P-ANCA and C-ANCA were negative. C3 and C4 complements were within normal limits. ANA was positive and returned the following: ANA 1:160 speckled and ANA 1:320 midbody. This prompted a referral to rheumatology, and my doctor ordered additional antibody testing, which has not been returned yet. Over the last week, my cognitive symptoms, dizziness, and nausea have worsened significantly. I have had more tightness in my hands and knees, worse flank pain, and have begun having intermittent difficulty expelling urine (I have to strain it for it to come out). I am scheduled for an EEG tomorrow. I have intermittent but mild swelling in my hands, but nothing more than I have had for most of my adult life. The stiffness is new, however.

Last night, I awoke with a sudden sharp pain radiating from the underside of my right forearm into my hand, and my fingers were numb and difficult to move. I then experienced the same pain on the left side of my neck, radiating into the back of my head. This morning, I had a lot of dizziness and cognitive difficulty. Walking, sitting, writing, or even having a conversation is becoming increasingly difficult. I cannot even bathe myself properly, as just sitting up is enough to make me very dizzy. I have not worked in a month. I have received no treatment, and no one seems to know what is wrong with me. If I try to type with my right hand and my eyes open, I start to fall over and feel like I will vomit. Some doctors have mentioned connective tissue diseases, like lupus and scleroderma, but they do not think that explains my cognitive symptoms. Because I can move my neck and the brain MRI one month ago was normal, they say I do not have swelling. Again, I do not know what is wrong, but I am getting worse daily.

After exposure to gadolinium contrast during an MRI two years and then a week of Bactrim for suspected UTI immediately after, I had muscle-swelling, joint stiffness, chest pain, and fatigue. Extensive testing was normal except for the gadolinium concentration (15x u/l one month after the scan). ANA, ANCA, Ig, CK, CRP, ESR, and CBC were all normal. CMP was normal except for elevated ALT, which normalized after stopping amitriptyline (prescribed seven years back for migraines) and losing 15 kg over the next year. My symptoms resolved after six months with two months of steroid taper, mild exercise, and acupuncture. It took me a very long time to write this, with many mistakes, and my wife had to help me. I previously had a neuropsychological assessment after a concussion eight years back, which rated my verbal intelligence as in the 98th percentile. My writing may seem "normal," but it's a huge decline. I can send those test results if you need them to verify.

Please give your suggestions.

Hello doctor,

Thank you for your reply.

The EEG was ordered only when I requested it; otherwise, they only wanted to check my B vitamins. It may be possible for my primary care doctor to order some of the tests you mentioned, but not the lumbar puncture, as a specialist can only order that, and I was already told they would not order that test. Are there any blood tests you would recommend? I will ask my primary care doctor about the tests you mentioned, but I am unsure if they can order them. I did want to provide a little more detail after I've been testing some things at home.

The dizziness I get when doing right-handed tasks, like writing, improves if I cover or close my right eye and use only my left. It improves by covering my right eye if I get dizzy just sitting or lying. These changes do not, however, impact my other cognitive symptoms, like language problems. I have also been having extremely vivid dreams, which I do not normally have (though I have in the past after every concussion, so it is a key sign that my brain is dealing with some stress or damage). Are the patterns I'm describing specific to anywhere in the brain, or does it say what may be the problem? Could migraines cause such symptoms for five weeks?

Last night, I ate dinner very late (10 pm) and had almost no neuropathy until waking at 6 am, though I woke up multiple times throughout the night. I have noticed that my symptoms are much worse when I am hungry. My blood glucose levels have been normal in my recent tests. Right before the onset of my symptoms six weeks ago, there was a delivery problem with my testosterone replacement, so I did not have it for two weeks (I have been on it for most of my adult life).

Thank you.

Hello doctor,

My primary care doctor will try to order the EMG-NCS test you recommended. Given the muscle and vision problems and low urine creatinine, should something like myasthenia gravis be considered? Would that explain my cognitive symptoms? I know there are blood tests for it, but would you have many suspicions based on my symptoms? We are still waiting for antibody test results, including those for myositis, lupus, and other autoimmune diseases. In addition, I am having increasing difficulty with walking (squeezing pain in my calves and feeling tightness in my knees without swelling). Is there any treatment you would recommend in this case?

Thank you.

Hello doctor,

I have one question about the EEG. Does the normal EEG combined with the normal MRI rule out things like stroke, encephalitis, or brain damage? I have now had two negative vasculitis panels as well.

Thank you.

Hello doctor,

What you have said makes sense. Two weeks after the symptoms began, I asked my doctor about Guillain-Barre syndrome. I have impressed upon them the need for the EMG, and they will be evaluated by a rheumatologist today. I will relay their evaluation to you.

Thank you.