Shahar Madjar, MD

For Joe, the twitching came on suddenly, surprisingly, shockingly, and in his own words, “out of the clear blue sky.” It seemed as if his left shoulder and the left side of his face had acquired a life of their own and moved of their own volition. The twitching lasted for a minute or two and then subsided. He initially chose to ignore the twitching, hoping that it would go away, but when these episodes started to reappear, every month or so, lasting longer, for up to 10 minutes at a time, his family took note of the change. Encouraged by his family, particularly by his wife, Joe decided to see a doctor in the emergency department close to home.

“It’s getting worse,” he told the doctor, “and lately, on top of the twitching, I can feel tingling and numbness in my left leg. I try to stomp my leg, but the tingling and numbness won’t go away. It’s as if an uncontrollable, invisible force is moving my left leg, taking control of my left arm, moving my left cheek.”

Were you confused? Did you lose consciousness?” The doctor asked. Joe shook his head, “No,” he said, “nothing like that.”

Joe was admitted to the hospital. First, a CT scan of his head and neck was ordered to delineate, among other things, the integrity of the anatomical structures in his brain. Then, an electroencephalogram was also ordered to asses the electrical activity within his brain. And last, a neurologist was called to consult on the case.

While he was in the hospital, another episode of involuntary movements took place. Joe’s wife and daughter were visiting him at the time. Joe’s wife ran out of the room to call the doctor. Joe’s daughter jumped out of her chair, stood next to him, and made sure that he was sitting safely in his chair. At the same time, she recalled what the doctors had told her: “In the event that anything like that happens again, take a video of it all.” Documenting the event, she understood, would help characterize the nature of the involuntary movements. She pulled out her iPhone and started videotaping her father’s convulsions.

This time, at the hospital, in addition to his involuntary movements, Joe also became unresponsive. A minute or two later, with the emergency medical services at his bedside, he returned to his normal self–sitting in his chair, talking to his wife, daughter, and the medical team, and being somewhat surprised by the commotion.

When facing such a medical enigma, doctors embark on a process of differential diagnosis. They review the symptoms, the signs, the course of events, and the results of lab tests and imaging studies; they consider several, sometimes multiple diagnoses; and then, by a process of elimination, they arrive at the most reasonable diagnosis. In the end, a medical puzzle is solved by putting pieces together, by giving a medical condition a name.

What caused Joe’s symptoms? It could have been a case of epilepsy, but his clinical presentation didn’t include some of the features characteristic of epilepsy: for example, prior to the convulsions, there was no ‘aura’ (a warning sensation–a sense of swirling colors, a memory, a specific smell, or a sense of impending doom–that typically presents itself before the involuntary movements appear). And after the convulsions, there was no sense of disorientation, confusion, or headache–also characteristic of epilepsy. Besides, Joe’s EEG was calm. It showed no sign of the excited electric activity characteristic of epilepsy.

Going down through the list of diagnoses, the doctors also considered that Joe’s involuntary movements could have been caused by other medical problems such as a brain tumor, brain infection, trauma, exposure to certain drugs or toxic agents, even a severe case of diabetes. But nothing in Joe’s history or lab results, was indicative of such a cause. And his CT scan was as clear as a whistle; it didn’t show a brain tumor, nor any other abnormality.

What was it then? In my last article, I told you that events that seems sudden, such as Joe’s convulsions, are often gradual in nature. In my next article, the last in this series, I will give you the final diagnosis in Joe’s case. His story unfolded “gradually, then suddenly.”

And a final note: Joe’s story is based on a true case as described in the New England Journal of Medicine. Any similarity to any particular Joe is purely coincidental.

EDITOR’S NOTE: Dr. Shahar Madjar is a urologist at Aspirus and the author of “Is Life Too Long? Essays about Life, Death and Other Trivial Matters.” Contact him at smadjar@yahoo.com.