090 - How to Solve a Rare Disease Case Presentation Even When it Has Stumped Other Physicians

What do you do when a 64-year-old patient presents with confusion, weakness, and ataxia, yet all tests come back negative? 

In this crazy medical story episode of The Independent Physician’s Blueprint, Jude A. Pierre, MD shares a personal case that stumped doctors for weeks—until the surprising diagnosis was confirmed. Learn how even rare diseases can sneak into your practice, and why it's important to keep unexpected conditions on your differential diagnosis.

By listening to this episode, you will:

1. Discover the hidden signs and severe complications of a not so common illness.
2. Learn how a thorough diagnostic process, including a lumbar puncture and lab follow up after discharge helped make the diagnosis
3. Get valuable insights on why it’s crucial to think beyond common diagnoses, especially with unusual presentations.

Hit play now to dive into this crazy medical story that will expand your diagnostic toolkit and help you make the diagnosis when you least expect it! Don't forget to subscribe so you never miss an episode.

Discover how medical graduates, junior doctors, and young physicians can navigate residency training programs, surgical residency, and locum tenens to increase income, enjoy independent practice, decrease stress, achieve financial freedom, and retire early, while maintaining patient satisfaction and exploring physician side gigs to tackle medical school loans.

Transcript

Coach JPMD (00:00.142)
So this week's crazy medical story is about a case that I had recently after 23 years of practicing. This was the first case of this condition that I've ever had. And I thought it would be interesting to share the story with our young physicians so that you can at least keep this on your differential diagnosis. Welcome back to another episode where I help younger physicians decrease stress and increase income by transitioning from corporate to independent practices.

even without any business experience. So what you're going to learn from this story is that you'll learn some symptoms of a disease that we should probably know in the United States, how it presents and the worst complications that you can get from it. So the case is about a 64 year old male who presented to me after a month and a half of symptoms of confusion.

headaches, weakness, and had a workup in Mexico. He was living in Mexico and wasn't sure what was going on and went to doctors down there. They did a CAT scan of the brain and it didn't show anything. It wasn't a drinker, didn't do drugs and was fairly healthy prior to this, except for a history of diabetes and hypertension, no other medical problems. His symptoms got worse.

His symptoms got worse and it included ataxia. He started to have the inability to walk. He started to get confused and severe muscle weakness. And he just continued to deteriorate his symptoms over the course of a month or so.

knowing that he was in Mexico and knowing that the care down there might not be as good as the United States. said, Hey, why don't you have the patient come to the United States? And, he was transported to the U S via regular, airplane, in a wheelchair because he could not walk. And prior to this, he was actually a long haul truck driver. And, so he was very functional and, completely with it. So this came to a surprise, to the family.

Coach JPMD (02:16.552)
And so when he arrived to the United States, came to Tampa and he was able to be seen by one of our cardiologists because for some reason they put him on proprafenone in Mexico and we still couldn't figure out why he was put on proprafenone. But we thought that he might have had an arrhythmia, maybe a small stroke that we couldn't determine.

And lo and behold, he went to the cardiologist and the cardiologist recommended that he be directly admitted to the hospital. So he went into one of our local hospitals and had a complete workup. So our neurologist, and because he was coming from Mexico, we said, Hey, you know, why don't we, we consulted infectious disease doctor because every single test that we sent was negative from Lyme titers to CBC to even HIV tests were all negative. And our neurologist said, you know what, why don't we do a lumbar

puncture, because not only was he having these symptoms, but he's also having some signs of encephalitis and confusion. So stayed in the hospital for 24, I think it was 48 hours in the hospital, had a lumbar puncture, had every single blood test known to man. And everything came back negative. So we were still unsure. So he was discharged home. And

A couple of days after discharge, we got a call from a neurologist and the titers for West Nile virus came back positive in the cerebral spinal fluid. He was positive for West Nile virus with a high IgG, with a low IgM. And that was the first case of West Nile virus that I've ever seen in my career in 23 years. So.

I had to do the research, of course, and come to find out that many of his symptoms were basically listed on the symptoms of West Nile virus, but his was more complicated. And from what I could tell, from what I researched, 1 % of patients with West Nile virus will get severe symptoms, including memory loss, hearing loss, difficulty walking, gait disturbances, abnormal reflexes, depression.

Coach JPMD (04:32.634)
And he does not recall being bit by a mosquito, but in Mexico there are mosquitoes in Mexico. So this was a very interesting case, something that was not expected and something that didn't even come to our, we didn't figure this out until he was actually discharged from the hospital. So he did a fully, he was fully recovered from this West Island infection and started driving truck after three or four months.

And this person was actually my father -in -law. And so this was something that I had to really take care of because it's my wife's father and he gave us permission to share the story. And I wanted to share the story with our young physicians to let them know that, when you have a patient that comes in with ataxia, that should be a differential diagnosis so that you're not led

down the path of maybe this is alcohol related, maybe this is a stroke related. And of course, all those things need to be ruled out, but West Nile virus should be on the differential. So that's this week's crazy medical story, West Nile virus. So hopefully this is helpful to you and hopefully this will add to your differential diagnosis repertoire for patients who come in with similar symptoms and we'll see you next week. Thank you for listening to these crazy medical stories.

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