A Real Life Medical Mystery
The patient: Jeff (name has been changed), a 36-year-old high school teacher
The symptoms: Recurring fevers and delirium
The doctor: Dr. Volodko Bakowsky, rheumatologist at QEII Health Sciences Centre, Halifax
In his late 20s, Jeff, a Halifax high school teacher, began catching nasty flus or lung infections several times a year, and often ran high fevers. “I just didn’t seem to have my usual immune response, and I wasn’t bouncing back,” he says. By his mid-30s, he had lost muscle mass and most mornings felt so tired that he had difficulty getting out of bed. He also couldn’t concentrate at work. “Somebody would say something to me, and two minutes later I couldn’t remember it.”
These episodes were manageable until June 2007, when one of Jeff’s recurring fevers was accompanied by hallucinations. “I was seeing bees, and water poured out of the ceiling,” he recalls. He stumbled into his physician’s office, leaning on his wife for support, and was advised to go to the hospital.
Tests in the ICU didn’t reveal much. The doctors suggested Jeff had a brain infection from an unknown source.
Jeff recovered after a few days and was able to return home, but the hallucinations came back five months later, while he was making breakfast. He didn’t feel particularly unwell but he suddenly stopped, stared into the frying pan, and asked his wife: “Do you see a chimpanzee face in the pancake?” (She didn’t.) Jeff was hospitalized for a week.
Doctors now theorized that his brain wasn’t infected, but rather was reacting to the recurring fevers. Sometimes, when people are older or in poor health, they become delirious when they get sick because their fragile brains can’t handle the extra burden. Delirium is unusual in younger people, however, and can sometimes signify an underlying life-threatening condition.
A Strange Discovery
One specialist suggested that Jeff may have a rare genetic condition called TRAPS disease that causes the immune system to behave as though an infection is present, triggering frequent fevers. Jeff was referred to a rheumatologist, Dr. Volodko Bakowsky, for investigation.
Bakowsky’s first impression of his new patient wasn’t a good one. Jeff arrived late after oversleeping. “I had set aside extra time for him. I was steaming!” says the doctor. Now, he laughs at the memory. “Sometimes there are clues that you don’t realize are clues at the time. The fact that he was late for his appointment was one of the presenting symptoms.” (Here’s what it could mean if you’re tired all the time.)
During a thorough physical exam, Bakowsky noticed slight reductions in Jeff’s skin elasticity and joint flexibility. Then, because Jeff had mentioned sinus trouble, the doctor checked Jeff’s ears—not something he always includes in an exam—and was dumbfounded. “His ears were solid bone,” says Bakowsky. “I was shocked. I’d never seen that before.”
Jeff had noticed his ears were sore when he slept on his side, as though his pillow was too hard, but he had no idea that bone was gradually forming in place of the cartilage that is normally just under the skin of the outer ears.
Bakowsky took a few days to research the strange collection of symptoms. “For each of the problems, you generate a list of possibilities, and then where something intersects, maybe it’s the diagnosis.” He adds that older people might have several medical conditions at once, but it’s different for people around Jeff’s age. “When you’re younger, it’s more likely one thing causing multiple symptoms.”
Here are 20 symptoms you should never ignore.
A Happy Ending
Most known causes of bony ears relate to the endocrine system, which produces hormones, so Bakowsky ordered blood work to check Jeff’s levels. Finally, he made an important discovery: “His cortisol level was vanishingly low. When that came back I thought, ‘We’ve got the answer!’”
Cortisol is a hormone made by the adrenal gland to respond to stress. Without it, the body struggles to manage infections or illnesses—it can’t control inflammation, for instance. (It’s not known why its absence can also turn ear cartilage to bone.)
Further tests revealed the cause to be a disorder in Jeff’s hypothalamus, the part of the brain that stimulates the adrenal gland. It’s such a rare cause of low cortisol that none of the doctors Jeff saw considered it. “He flew under the radar,” says Bakowsky.
The lack of cortisol explained every symptom. Furthermore, whenever Jeff was exposed to a germ that most people could have handled easily, he became severely ill because his body couldn’t manage the additional stress.
Jeff was able to replace his cortisol with an inexpensive pill, which he started taking immediately. “Within a day, I felt like a million bucks,” he says. “I’ve been healthy ever since.”
After his recovery, Jeff was inspired to help out the hospital that turned his life around. Whenever he was visiting for a follow-up, he’d set aside time for medical students to examine his ears (the bony changes are permanent).
And about three years ago, Bakowsky selected Jeff’s case for discussion at a conference at Halifax’s Dalhousie University. Often, the patients whose cases are analyzed at these events are no longer alive—but on this occasion, Jeff was in the audience, and even stood up to say a few words. “His was a happy ending,” says Bakowsky.
Next, check out a medical mystery that will make you think twice about how you dress your bed.