23. The Pair
Jacob was losing everything so fast. He was a 30 year-old lawyer whose brain was failing and nobody knew why.
He was a regular guy until he turned 22 years old. By then, he started having generalized seizures, but they were relatively well-controlled with anti-epileptics. That was the good part.
The problem was after that. He started having what seemed like strokes, one after the other. First he had an acute loss of his sight at age 27, then his hearing started to fade and now he had lost strength in the right side of his body.
When I first saw him on the floor, he was bummed out. Not knowing what he had and not knowing if he would have another stroke or not just killed him. He and his wife were so sad and we didn’t know how to help.
We had ordered him yet another MRI and some laboratory review. Every time I passed by his room they would ask me a million questions, most of which I didn’t have an answer to. At first, it upset me. It upset the staff actually, because it was pretty demanding. But Lucy made me see that I was wrong.
‘We’re too used to passive patients.’ She said. ‘We want them to ask, but not too much. We think they should accept everything we say, just because most of them do. But that’s not true. They’re right to ask, and it’s our job to explain, it’s our job to convince.’
She was right. If it were my family, I would be the one asking a million questions. So I tried my best at clarifying their doubts, but it’s hard when you still don’t know the answer.
When we got the result of the MRI, some mild cerebellar atrophy was seen and what looked like a stroke of the left middle cerebral artery, but that didn’t really fit. If he had only that, he should’ve lost strength only in the upper body and face, not the entire side.
After thinking about it, I looked at the MRI again.
‘Don’t you think this image is weird, Peter?’
‘Sorry, what?’ He was distracted that day, had a lot of tough cases going on too.
‘Jacob’s MRI. Remember? The one that is stroking like crazy.’
‘Oh, yeah.’ He thought for a moment. ‘What about it?’
‘It just doesn’t fit.’ I reminded him of Jacob’s symptoms.
‘Well, if he lost strength in a whole side, it has to be in the brainstem.’
‘Right!’ I was happy I wasn’t wrong after all. ‘That’s what I thought, but it isn’t.’
I showed him the image and he stared for a while.
'That's weird.’
‘Isn’t it?’
I left him with the image and went for a coffee. He was really good at imaging.
Through the cafeteria window, I saw Jax outside and went to talk to him.
‘Not vaping today?’ I was honestly impressed.
‘No, not today. Still trying to quit, remember? Besides, I’m too nervous about my patient.’ He paced back and forth.
‘Why? What’s wrong?’
‘Everything. She is a 13-year-old girl who was fine until a couple of months ago. She had an infection or something and after that, she started having these myoclonic jerks that won’t get any better. Besides, she is losing her strength, sight, and hearing progressively and we don’t know why.’
‘Wow.’
‘I know, it’s so sad.’
‘Yes, it is. But that’s not what I’m impressed with. I have a patient weirdly similar to that.’
‘Really?’
After telling him, he came with me to look at Jacob’s MRI. When we got there, Jax looked at the image while I told Peter about Julie, the girl with similar terrible symptoms.
‘Oh my God!’ He shouted.
‘What?’ Me and Jax asked at the same time.
‘I know what they have! Now that you told me that way, it rang a bell. Damn, our brain is so limited, isn’t it? I only thought about it because of the way you said it.’
‘For God’s sake man, just say it.’
‘I think they both have mitochondrial myopathies. You literally said a young girl, with myoclonic jerks, muscle weakness, optic problems, and hearing loss. Do you see?’
‘Yes! Myoclonic epilepsy with ragged red fibers.’ I said.
‘And do you think your patient has the same thing?’ Jax asked.
Now I already knew what he probably had.
‘Not exactly, he probably has MELAS syndrome.’
‘That’s right, Lisa.’ Peter pointed to the MRI. ‘I spent a long time in this, and if you look really hard, you can see that this ischemic lesion extends beyond the territory of the middle cerebral artery. See? That explains his symptoms and why it is not a stroke after all.’ We were impressed. ‘Besides, his lactate came back high.’
Peter stretched his back and smiled happily with himself.
‘You know Peter Allen, you might be a genius.’ Jax mocked him. ‘See you, nerds. I’m gonna go get Julie a muscle biopsy.’
I went to do the same thing, and Peter was damn right. Unfortunately, it wasn’t great news for either of them since it wasn’t curable nor easy to treat. They ended up being referred to a center specialized in mitochondrial myopathies.
Jacob and his wife were both happy and sad when I delivered the news. Happy to know what was wrong, but sad that it didn’t have a great prognosis. But they were grateful nonetheless, and I was glad I got to meet them.
Later that day, Peter walked into the on-call room.
‘Did you know they were both adopted?’
‘Who?’
‘Jacob and Julie.’
‘Oh, that explains why they didn’t have a family history. How weird is that they were both here at the same time?’
‘Well, you know what they say, some cases always come in pairs.’
…
Want to read more about MELAS syndrome?
Want to read a real case of MELAS syndrome?
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3912399/
Clinical Board
Wanto to read more about Myoclonic Epilepsy with Ragged Red Fibers (MERRF)?
https://rarediseases.org/rare-diseases/merrf-syndrome/
Want to read a real case of Myoclonic Epilepsy with Ragged Red Fibers (MERRF)?
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4943405/
Clinical Board
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