25. The Unrelated Symptoms
That day I was in the outpatient clinic. It hadn’t been a great week. Most of the patients I saw were suffering at a dead end. Waiting for a diagnosis, struggling for some treatment, basically showing off the impotence of medicine, which made me quite sad.
Despite that, I ended up seeing a very interesting case. He was a 42-year-old with persistent diarrhea.
‘Morning, Dr. Diaz!’
‘Morning, Matthew!’ He hated it when I called him by his last name. ‘How have you been?’
‘Same thing, Dr, still having that diarrhea. But actually, what is bothering me now is this weird sensation on my skin, like tingling.’
Matthew was investigating his diarrhea for a few months now in other places, but I first met him the week before. We had ordered a few tests but we still didn’t have a great hypothesis for it. Now that he presented with another symptom, it might become easier. But I was still unsure.
We had already established that his diarrhea was watery, and we were still investigating it. Besides that, I asked him all about his tingling but he just didn’t know how to explain it very well. The only thing he could tell me was that it tingled.
Because his diarrhea was so important, I thought his tingling could be from an electrolyte imbalance, but still, I decided to do a neurological exam just to check if it could be something different.
His skin sensitivity was normal and his deep tendon reflexes were nearly normal. However, when I tested his cranial nerves for completeness sake, his peripheral vision was gone. He couldn’t see anything on his sides. Weird.
I went to discuss it with Peter while the patient went to his ultrasound scan. I decided to order one right then because he was having trouble scheduling at home.
‘Are you busy, Peter?’
‘Not at all. Shoot.’ He was finishing eating.
‘I have an interesting case. Watery diarrhea under investigation and tingling.’
‘Electrolyte imbalance?’
‘That’s what I thought. But in the neurological exam, he had bitemporal hemianopsia. Some electrolyte changes can’t explain that, right?’
‘Hum… Interesting. No, they cannot.’ He thought about it for a moment. ‘One thing at a time. What do you think his diarrhea is?’
‘I don’t know. It is relatively recent and it doesn’t seem to be food-related. I’m thinking of either infection, malabsorption, or some neoplasia, cause, well, you never know.’
We started brainstorming through some hypotheses, but none were very inspiring. Until we got to his hemianopsia.
‘What could give hemianopsia and diarrhea?’ Peter asked.
‘Well, I don’t think only one thing could explain both. But maybe two related things?’ One second later I had figured it out. ‘Yes! Two related things.’ I could see Peter was still a little lost. ‘The three P's Peter.’
‘That’s right! A pancreatic tumor causes diarrhea, a pituitary tumor causes hemianopsia, and maybe a parathyroid tumor can cause hypercalcemia and tingling. Three related things then.’ He laughed.
‘I’m gonna go check his ultrasound and see if we are right. Thanks for the help!’
'You’re the one that figured it out, nerd.’ Damn Jax that taught him to call me that.
In fact, the ultrasonography showed a pancreatic mass, which we later identified as a VIPoma. Besides, his serum calcium came back high. We were right about Matthew.
I explained to him that he had a condition called multiple endocrine neoplasia type 1, which in his case consisted of these 3 related tumors. I explained that it was usually inherited, and he did say his father had hyperparathyroidism.
‘He even got it removed, his parathyroid glands. I forgot to mention when you asked about him.’
‘No problem. But anyway, since we figured this out now, you both should go through an evaluation to check for these other tumors.’
He was satisfied although a little sad that what he thought it was just stomach upset was so much more than that. Either way, I encouraged him to keep up the good energy I always sensed in him. He smiled.
‘No worries, doc. My good mood is safe.’
I got home early that day, and I was impressed to see that Jax was already there.
‘What kind of miracle is this? That we are both at home already?’
‘No idea. It’s raining today for sure.’
‘Want to order something to eat?’
He called an Indian place we like and we watched baseball while waiting for the food. The best part of baseball is that it never disappoints you. They play every single day.
‘So, anything interesting you learned at the clinic today?’ Jax asked.
‘In fact, yes. Lesson 1: do a neurological exam in patients with diarrhea.’
He looked puzzled.
‘MEN 1.’
He laughed.
‘Damn you and your interesting cases.’
…
Want to read more about Multiple Endocrine Neoplasia Type 1?
https://rarediseases.org/rare-diseases/multiple-endocrine-neoplasia-type-1/
Want to read a real case of Multiple Endocrine Neoplasia Type 1?
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6135292/
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