A Tale of Two Brothers
Gillespie, L. E., Dave, A., & Goldstein, A. (2020). A Tale of Two Brothers: Familial Voltage-Gated Potassium Channel Autoimmune Encephalitis. Cureus, 12(6), e8723. https://doi.org/10.7759/cureus.8723
This month’s journal club is taking us into the rare and wonderful. We’re looking at a case study published by Gillespie and colleagues back in 2020.
Now, before we jump in—what’s a case study? Think of it as a single patient’s story written up in a scientific journal. On its own, it doesn’t change how we practice medicine, but it’s the starting point for everything. When more of these stories are collected, they turn into case series, and eventually into larger studies that help us see patterns in the human body. So while one-off stories don’t rewrite medical textbooks, they often light the very first spark.
Personally, I love case studies. They remind us that behind every scan, test result, and blood marker is a real person with a story. They bring the human side back into medicine.
The article itself was published in an open-access journal by a group from Omaha, USA, with full parental consent for the story to be shared.
The first boy in the story was just seven years old. He came to hospital after four days of nausea, vomiting, headaches, and what doctors called “altered mental status” (basically, changes in mood, awareness, and behaviour). On examination, his pupils were unusually large, and he had weakness on the left side of his body. He couldn’t speak, was agitated, and seemed generally unwell. Interestingly, there were no clear signs of a stroke. Doctors ran an MRI and blood tests. The MRI showed some unusual changes in the protective covering around the brain (the meninges) and blood vessels. The blood test revealed something striking: he was positive for Anti-VGKC antibodies.
Two years later, his younger brother presented to hospital—this time with confusion, hallucinations, and intense fear of being alone. A few weeks earlier, he’d even described the sensation of bugs crawling on his skin. In hospital, his hallucinations, paranoia, and agitation continued. And sure enough, his blood work showed the very same antibody marker as his brother.
Both boys were treated with steroids and immune therapies. The older brother needed additional physiotherapy and occupational therapy, and while he improved, he still experiences episodes of psychosis. The younger brother responded better to treatment. This is the essence of the case: two brothers with the same rare autoimmune-related brain disorder, showing up not with typical physical symptoms but with psychiatric ones.
Neuroimmune conditions like this happen when the body’s immune system—our “police force” against viruses and bacteria—accidentally turns on healthy parts of the body instead. In this case, it was the brain. This type of condition is called autoimmune encephalitis. It can be triggered by viruses, genetics, or sometimes with no obvious cause at all. Left untreated, it’s life-threatening and can cause long-term disability. The fact that both boys in the same family developed it suggests a possible genetic link, though environment may have played a role too.
This case highlights a few important things. Autoimmune encephalitis is very rare—but it exists, and we need to keep it in mind, especially when the usual explanations don’t fit. Children often present differently from adults, so doctors need to think outside the box when kids show unusual psychiatric or neurological symptoms. And the body’s immune system, when it goes into “overdrive,” can cause enormous damage.
And maybe here’s where I get a bit more philosophical: I sometimes wonder if our bodies, living in a world that feels increasingly stressful and unsafe, are responding with this kind of heightened state of overprotection. Not science, but food for thought.
Beyond the medicine, what I loved most about this article was the reminder that medicine is always about people. Doctors learn so much from our patients. We share their wins, and yes, we also feel their losses. Reading this paper felt like walking alongside these two brothers and their family. Hopefully, as more research comes in, we’ll build better treatments and maybe even prevent conditions like this from happening. For now, though, this story leaves us with a reminder: sometimes the rarest cases teach us the most.