Monday, May 8, 2017

What caused this college student's stomach pain-and vomiting?

The sister found her in her dorm bathroom, unconscious and covered in vomit. The water was still running in the sink, and an electric toothbrush buzzed nearby, suggesting a sudden, unexpected collapse.

The young woman had no medical problems, her sister told the emergency team. But she had gone to the E.R. three months earlier — taken by friends who noticed that she seemed confused. At that visit, she had an M.R.I. of her brain and some blood tests. The tests were unremarkable except for a minor abnormality in the test of her liver function. (She saw a doctor for that a few weeks later who didn’t pursue it when her levels normalized.) She got better with time and some IV fluids and was sent home later that night. Though testing showed no alcohol or drugs in her system, some of the doctors wondered if she’d taken something — synthetic marijuana or LSD, perhaps — that wouldn’t show up…

In the E.R., the comatose young woman reacted to pain, but nothing else. She remained rigid, from her jaw to her feet, which suggested a terrible brain injury. But a CT scan of her brain looked normal. The blood tests were likewise unremarkable, save for the same minor abnormality in her liver-function test…

The I.C.U. doctors examined the young woman as soon as she arrived but had no better understanding of what was causing her coma. They asked for help from neurology, cardiology and infectious diseases. Those doctors were baffled as well. An M.R.I. revealed that the girl’s brain had swollen and was now pushing up against the unyielding limits of the skull. If the cause of the swelling was not found and reversed, she would certainly die…

The patient was started on anti-seizure medicines. Although the seizures stopped, the patient didn’t wake up. Indeed, it was clear that she was getting worse. Her eyes, initially reactive to light, became fixed and dilated. And when icy water was squirted into her ear — a stimulation that would normally cause a strong involuntary reaction — nothing happened, indicating that her brain was not working, even at the most basic level.

The team stopped all potentially sedating medications to see if they were contributing to the problem. There was no improvement. And so, after a thorough work-up and thoughtful care, eight days after this young woman was brought to the hospital, she was taken off the breathing machine. Without its assistance, she breathed no more, so the team pronounced her brain-dead…

Why did this happen? The family asked over and over, but the doctors who had cared for the young woman couldn’t tell them. Her brain had swollen, and that swelling killed her, but beyond these basic facts they simply didn’t have an explanation.

The family, though grieving, decided to donate the young woman’s organs. Her heart, liver and kidneys found grateful recipients. Then the family took their child’s ashes home and made plans to scatter them in a beloved place.

A few weeks after the young woman’s death, her father got a call from the Donor Network of Arizona. The recipient of his daughter’s liver had died, too, just days after the transplant surgery. Shocked, the transplant team immediately went to work to find out what happened. The answer was a surprise. The liver donor had been born with a genetic defect. She was missing the genes that made a chemical called ornithine transcarbamylase (OTC) — a vital enzyme whose job is to help the liver break down proteins. Proteins are the building blocks of muscles, and something as simple as eating meat, or stressing the body through, say, fasting or surgery, can release additional proteins into the system. When something goes wrong with the process that breaks down protein, toxic levels of ammonia can build up, which in turn attacks the nervous system and the brain.

Courtesy of a colleague

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