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Doctors couldn't solve this man's decades-long heartburn, but his sister found the cause


A 43-year-old patient experienced heartburn for most of his life, but suddenly, reflux of food caused him to vomit frequently. His doctor put him on medication, but it wasn't helping. Then, his sister, a neurologist, examined him and found something, Lisa Sanders writes for the New York Times Magazine.

Severe heartburn, vomiting, and balance problems

The patient stopped drinking coffee and alcohol and stopped eating spicy foods, but none of it helped. He talked to his doctor about the symptoms and was prescribed a proton pump inhibitor (PPI) to reduce the acid or excess protons made by his stomach.

The PPI relieved the patient of the burning pain, but he still had a metallic taste in his mouth and still vomited several times a week. The man noticed that he didn't throw up as frequently when he drank smoothies, so he almost entirely gave up solid foods.

He eventually went to a gastroenterologist who used a small camera to look at the man's esophagus. The stomach looked fine, but the region where the esophagus entered the stomach was off.

Typically, the esophagus ends with a small sphincter that stays closed to protect tissue from stomach acid, and only opens to let food pass. However, this man's esophagus was wide open at the end and the tissue around it was swollen. The gastroenterologist told the patient he had Barret's esophagus, a precancerous condition caused by the damage from stomach acid. The patient was placed on higher doses of PPI and eventually had surgery to prevent the reflux of acid coming up his throat.

The surgery helped stop the vomiting and the man was able to eat solid foods again, but the metallic taste stayed in his mouth. The patient started PPIs again, which helped some, but he experienced what he believed were side effects — feeling off-balance and uncoordinated.

A discovery by his sister

The man's sister asked to examine him. To test his balance, she had him stand and close his eyes. He didn't fall. Then, she had him walk like he was balancing on a tightrope, putting his heel directly in front of his toes and walking in a straight line. After a couple of steps, his body swayed and he stumbled, catching himself before he fell.

The sister checked the man's hearing by rubbing her thumb against her index finder and middle finger. It made a sound she could hear, and while her brother could hear it in his left ear, he couldn't hear it in his right, and he told his sister that he'd been having trouble with that ear for a while.

The man's sister reached out to a colleague, asking whether the man was suffering from some kind of nutritional deficiency caused by the vomiting, if the symptoms were related to the high dosage of PPI, or if he could have cancer somewhere.

The colleague replied saying it was unlikely related to the PPI and that they were concerned about a tumor. The sister reached out to Daniel Woo, another colleague and a neurologist, who agreed that her brother needed to go to the neurology department at the University of Cincinnati where he worked to be seen.

The next day, the man and his sister drove to Cincinnati and the man had an MRI. The scan found that behind the man's ear, was a bright white mass the size of a golf ball — a tumor, and one of the largest the man's sister had ever seen.

Woo told the man he likely had an acoustic neuroma, a slow-growing non-cancerous tumor that develops from the cells protecting and supporting the nerves that control balance and hearing in the middle ear. These cells sometimes slowly grow out of control, and as the tumor gets larger, it starts to disrupt the nerves, causing unilateral hearing loss, tinnitus, and balance problems. The tumor was also what caused the man's nausea and vomiting.

While the tumor wasn't cancerous, it needed to be removed or it would continue to grow, Woo said. Since the tumor was so large and close to so many important parts of the body, the man would need two separate operations.

The first one lasted 12 hours, and afterwards the patient noticed that while the metallic taste in his mouth was gone, as was the nausea, he had no hearing in his ear and his balance had gotten worse. During the procedure, the surgeon had been forced to remove the nerves in charge of hearing and balance on the right side of the man's brain. The second operation took place six months later.

Over the four years that have passed since the man's second surgery, recovery has been slow, Sanders writes. The man's balance has improved but it's nowhere near as good as it was before his tumor. However, his brain "works in all the other ways he values," Sanders writes. (Sanders, New York Times Magazine, 2/8)


Have a medical mystery? AI could help with that.

Although clinical use of artificial intelligence (AI) is still limited, the technology may be beneficial in diagnosing rare diseases, which are often misunderstood or overlooked by regular doctors, Bina Venkataraman writes for the Washington Post. 


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