The Challenge: Can you figure out what is wrong with a 28-year-old woman who, over the course of weeks, becomes completely debilitated by abdominal pain, profound weakness and seizures?
Every month the Diagnosis column of The New York Times Magazine asks Well readers to sift through a difficult real-life medical case and solve a diagnostic riddle. This month’s case concerns a previously healthy young woman who goes to the emergency room repeatedly with abdominal pain. Over the next few weeks she develops weakness so severe that she cannot even walk, along with severe hypertension and seizures.
I will give you the information on this patient that was available to the doctor who finally made this difficult diagnosis. Can you figure it out? As usual, the first person to crack the case gets a copy of my book, “Every Patient Tells a Story,” and the satisfaction of solving a very tough puzzle.
The Baby and the Bathwater
The young man struggled to lift the limp figure from the bathtub. She had made him promise that he would get her out of her bath if she couldn’t do it on her own. She had been so weak recently. The previously feisty and funny 28-year-old he was hoping to marry some day had somehow become as helpless as a baby.
He drained the water from the tub, then put her slender arms around his neck to lift her out. She couldn’t help him at all. She apologized in his ear as her feet slid helplessly from beneath her.
Suddenly he felt her body stiffen and her shoulders jerk. He lay her back down quickly and screamed out, she’s having another seizure! Come quick!
The door burst open as the young woman’s mother rushed in, phone in hand. I’m calling 911, she told him after taking one look at the young woman’s naked, lurching body. The emergency medical workers arrived within minutes. They had come to know the house and the patient quite well the past few weeks. They quickly lifted her now flaccid body onto the gurney and loaded her into the ambulance.
In the emergency room at the Yale-New Haven Hospital in Connecticut, the patient was awake. She remembered being in the bathtub and the arrival of the emergency medical workers, but the parts in between were vague and incomplete. All she knew for sure was that she was too weak to move.
The Patient’s History
The electronic medical record provided the doctors with the details of the young woman’s recent illness. She had been seen in the emergency room frequently over the past couple of years. Initially it was for abdominal pain. Then, about two weeks earlier, she was brought to the ER after a seizure – her first.
At that time she was confused and hallucinating. Her seizures were frequent and uncontrollable. Her blood pressure was terrifyingly high – nearly twice her normal readings. Once her seizures were finally controlled, an M.R.I. scan revealed the cause: she had large swelling of the back of the brain, near the visual cortex and temporal lobes, a condition known as PRES, for posterior reversible encephalopathy syndrome. This unusual syndrome is seen most often in those who, like this patient, develop very high blood pressure suddenly.
You can see the ER notes and the M.R.I. here.
The patient was admitted to the intensive care unit. There, her blood pressure was carefully brought under control with powerful intravenous medications and she was loaded with Dilantin, a drug used to prevent seizures. She stayed in the hospital for a week. By the time she went home she seemed mostly back to her old self – though she still had the occasional visual hallucination.
You can see the note at the time of her discharge from the hospital here.
None of the doctors who cared for the patient then were able to identify the cause of the sudden worsening of her condition. The brain injury caused the confusion and hallucinations, and the injury was probably caused by the rapid rise in her blood pressure. But where did the high blood pressure come from? That wasn’t clear.
She had a history of substance abuse – heroin and cocaine, mostly. But, as she told anyone who asked, she had been completely clean for the past two years and was working as a volunteer counselor to help other addicts find their way to sobriety.
Despite her insistence that she was sober, the leading suspected diagnosis was that the patient had used some drug that they couldn’t pick up on their tests. The only medicines she took, she said, were the medicine to treat her hepatitis C and the heartburn medicine she took for her stomach. She had never used the drugs known as “bath salts,” and never used “K-2,” a type of synthetic marijuana.
Still, the unspoken question remained: What else could it be? She didn’t have any of the usual causes of acute hypertension. They had looked for everything they could think of. Given her history, substance abuse seemed the most likely cause. And her work as a counselor could be a motivation to lie. So at the time of her discharge she was encouraged to stay sober and sent home.
Back in the Hospital
That was a week ago. Now the patient was back after yet another seizure. And though the patient was alert and seemed completely with it, her mother reported that she had been hallucinating earlier that day. Indeed, she had been confused off and on since she left the hospital.
On exam, the young woman did not look critically ill, although her lips were quite swollen and bloody. When asked, the patient said that she had been chewing on them, though she wasn’t sure why. Her blood pressure was well controlled on the medications she was taking. The rest of her exam seemed unremarkable.
Her laboratory results told a different story. The normal electrolytes in her system were dangerously low. She was started on intravenous fluids to replete her sodium, phosphate and magnesium. The loss of these electrolytes could be the cause of the weakness she reported as well as her seizure in the bathtub, but it wasn’t clear why these essential minerals should be so low. She was admitted to the ICU for treatment and further work up.
In the ICU she had a follow up M.R.I. that showed the brain injury seen in the last hospitalization was improving. You can see that M.R.I. here.
Over the next several days, the team in the ICU tried to figure out what was making this young woman so sick. While drug use was again a concern, it was not the only one. A spinal tap showed no signs of infection. Blood tests showed no signs of vasculitis, an inflammation of the blood vessels. Symptoms such as hers were not listed as noted side effects of the new medicine she took to treat her hepatitis. The neurology team was concerned that she could have some type of autoimmune encephalitis, but when those studies finally came back they, too, were negative.
After a few days, the patient’s electrolytes were normal and she was transferred out of the ICU to the regular floor. Dr. Stephen Holt was the internist assigned to care for her.
A Familiar Face
The hospital room was dark when Dr. Holt first went to see her. Illuminated only by the light that strayed in from the hallway, the slight figure lay under the covers, barely visible. Her hair was a tangle of bright scarlet curls. The young woman’s eyes were closed but the lids and area around her eyes looked swollen. Her lips were inflamed and cracked, streaked with dried blood.
As Dr. Holt approached the patient, the bustle of the hospital died away and the only sound was the rapid shush of breath moving in and out at a rate too fast to be mistaken for the normal cadence of sleep. On the far side of the bed sat an older woman, the patient’s mother. Her face was drawn and solemn.
Dr. Holt had met them the last time she and her adopted daughter were in the hospital. Back then she had been sick – but not like this. Now she looked as if she were dying.
After nodding a quick greeting, Dr. Holt walked to the sleeping young woman. He could hardly recognize in this wreck of a face the quick-witted young woman he had met a week before.
”Are you awake?” he asked.
The young woman opened her eyes immediately and seeing Dr. Holt’s face her lips curved into as much of a smile as their distended cracked surface would allow.
“I’m Dr. Holt,” he told her. “Do you remember me?”
“Fancy – meeting — you — here.” Her words emerged slowly, mere whispers. A little gasp of breath separated each word. She clearly meant to sound lighthearted – a hint of the woman he had met before – but coming from her now, the words served only to underline how much sicker she was this time.
She felt so very weak, she breathed. Her arms and legs were heavy, as if held down by weights. But could he take her shoes off? she asked. They felt so very, very tight.
She was wearing her shoes in bed? he asked. She jerked her head insistently. The doctor pulled up the covers from the bottom of the bed to reveal her feet. They were bare.
“Those aren’t my shoes,” she insisted in tiny gasps. “Take them off.”
A Puzzling Case
Dr. Holt had first met the patient when she had been transferred out of the ICU during her last hospitalization. She was funny, bright, engaging and ready to go home. He asked her then if she had used any drugs before her seizure. They had tested her blood and urine and hadn’t found anything, but it was possible that she had taken something they didn’t test for.
Absolutely not, she said, looking him in the eye. Sure, she had used heroin in the past. But she quit, and she was clean and had been for two years. She was ashamed, but it was an old story. She had fallen in with the wrong crowd. Started using drugs. Ended up with a heroin habit.
It took her some time to come to her senses, but she had cleaned herself up and stayed clean ever since. She was serious about her sobriety. She didn’t smoke. She didn’t drink. And she certainly didn’t use drugs. The only souvenir she had from that time was a case of hepatitis C, and she was getting treated for that.
Now she was back, and worse than ever. What was going on?
Dr. Holt believed her then, and he still believed her now. He examined the patient quickly but carefully. Her heart was racing, and she was breathing faster than normal. Her lips were a mess. He was surprised that her lungs were clear. She was so short of breath he figured he would find something wrong there. Her arms were somewhat weak; her legs were too weak for the patient to even lift them off the bed. He wasn’t sure what was causing this woman’s symptoms, but he was determined to find out. He excused himself and promised to return later.
He wrote a brief note in the chart and headed off to round on the rest of his patients. You can see Dr. Holt’s note here.
Solving the Mystery
After seeing his other patients, Dr. Holt settled in to his office to figure out what this young woman had.
He did figure it out. Can you?
Rules and Regulations: Post your diagnosis and the test used to confirm it, along with any questions you may have, in the Comments section. The first person to answer correctly will receive a copy of my book and that nice feeling you get from solving a mystery. The winner will be contacted. Reader comments may also appear in a coming issue of The New York Times Magazine.