“You might have had a stroke,” the doctor told the 44-year-old woman. “The right side of your face is paralyzed.” Ann (who asked that we use an abbreviated version of her name to protect her privacy) nodded in agreement. It was, after all, why she had called for the appointment with her doctor just a couple of hours earlier.
That morning she woke with the worst headache she ever had. It seemed to start at the back of her head and extend down her neck into her right shoulder. Her jaw — also on the right — had been painful off and on for the past three months, and it was worse than ever that morning. She called her dentist who had recently given her a mouth guard to wear at night. It wasn’t working, she told the young woman who answered the phone. But as she tried to explain her symptoms, Ann’s words sounded strangely slurred to her own ears.
When she got off the phone, she hurried to the bathroom to see if she could figure out what was making her voice sound so odd. She hardly recognized the face she saw in the mirror. It was lopsided, asymmetric. The right side looked strangely flat as if all the air had been let out of the natural bulge of her cheek. The usual upward curve of her lip was gone and the corner of her mouth seemed to actually sag downward. She forced a smile and while the left side creased upward into a say-cheese kind of smile, the right side of her face didn’t move at all.
She called her doctor right away and made the appointment to see him that afternoon.
A New Set of Problems
For the past year, Ann felt as if she had been dealing with an overwhelming set of medical problems. Nearly 30 years earlier she developed diabetes but managed the disease by using an insulin pump. She had been a little too heavy when she was younger but lost most of her excess weight by eating better and exercising more often. But over all, she was healthy and happy until the year before when she developed a terrible burning pain and pressure in her throat and stomach any time she ate.
She was diagnosed with heartburn, what doctors often call reflux, and a gastric ulcer. Her doctor gave her an acid-reducing medication, as well as one to protect her stomach lining called Carafate. A scope a few weeks later showed that the reflux and ulcer were better, but her pain remained. Recently, simply eating any solid foods became excruciating. And so, four months earlier, she put herself on a liquid diet. If she drank her meals, she felt less pain.
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But suddenly she developed a new pain. The right side of her jaw, just over the joint, began to feel stiff and achy. She wondered if her jaw muscles had weakened because she was not chewing her food. Or perhaps she was grinding her teeth at night. She called her dentist, who said that she was likely experiencing a problem with her Temporomandibular joint (TMJ) and gave her a bite guard to wear when she slept. It didn’t help. Still, at that point, the pain was intermittent, and she could put up with it.
But over the course of the next few weeks the pain in her jaw grew more intense. It went from intermittent to constant and she felt as if it was affecting her ability to chew or even open her mouth.
She finally went to see her dentist who examined her and said that her jaw seemed misaligned. He made impressions of her teeth and sent her to an oral surgeon. The surgeon agreed that her bite was a little off but didn’t feel that anything needed to be done. (You can see one of the X-rays of her jaw here.)
As Ann’s jaw pain worsened, so did her headaches. And then she developed the strangest symptom of all. Every now and then her upper lip, on the right, would go flaccid. It didn’t hurt — one of the few places on the right side of her head that didn’t hurt — but it was strange and it sometimes made her speech sound a little funny. That was just a few weeks before the whole right side of her face did the same thing.
Was It a Stroke?
Her doctor was worried as soon as he saw her asymmetric face. Most of the time, unilateral facial paralysis is caused by something known as Bell’s palsy — a type of temporary paralysis of (usually) one side of the face caused by damage or trauma to the facial nerves.
The facial nerve — also called the seventh cranial nerve — travels through a narrow, bony canal in the skull, just below the ear, to carry information to and from the spine to the muscles on either side of the face. For most of its journey, this nerve is encased in this bony shell.
Each facial nerve directs the muscles on one side of the face, including those that control blinking and facial expressions such as smiling and frowning. The seventh cranial nerve is also in charge of the tearing of the eye (lacrimation) as well as the sense of taste. When Bell’s palsy occurs, the function of the facial nerve is interrupted, and so the messaging between face and brain stops, resulting in facial weakness or paralysis.
Current thinking within the medical community is that a viral infection such as an upper respiratory infection or the common cold sore virus — herpes simplex — is the most common cause of this kind of nerve injury. The viral infection causes the nerve to swell and press up against the bony canal, damaging the nerve or the fatty protective layer called myelin that surrounds it. Other possible causes of Bell’s Palsy (named for Charles Bell, the 19th-century Scottish surgeon who first identified the facial nerve) include trauma, Lyme disease, tumors, high blood pressure, influenza or other upper-respiratory infections. Diabetes — which this patient had — is also an important risk factor for Bell’s Palsy.
On the other hand, her diabetes, although very well controlled, also increased her risk of having a stroke. Which was it? Her doctor wasn’t sure. So, although the doctor thought Bell’s was more likely, he wanted her to go to the hospital to make sure it wasn’t anything else. (You can see her primary-care doctor’s note here.)
A Harrowing Car Ride
Ann drove herself to a nearby medical center. There was no reason for her not to drive — she got herself to the doctor’s office an hour before. But as she drove, her right eye suddenly shut, and she couldn’t open it. She could drive with only one eye open but it was unnerving not being able to open her eye. When she arrived at the emergency room, she went to the registration desk. While she was there, signing the needed documents, she felt as if she couldn’t control her right hand. Her signature was shaky and strange. Her right leg felt weak as well. Someone helped her into a wheelchair and brought her back into the treatment area.
Hearing the patient’s story of progressive neurological symptoms that extended far beyond the face worried the doctors enough to have the patient admitted. A neurologist saw her in the emergency room. (You can see the notes from the E.R. here.) She was in the hospital for five days as her team looked for the cause of these strange symptoms.
She had many tests. A CT scan of her head was unrevealing as was an M.R.I., so it wasn’t a stroke or a tumor. A lumbar puncture (also known as a spinal tap) was performed and was normal, showing the cause of her symptoms wasn’t an infection or some kind of malignancy. It wasn’t Lyme, it wasn’t myasthenia gravis; it wasn’t multiple sclerosis; it wasn’t Sjogren’s. She wasn’t pregnant. It wasn’t H.I.V. or syphilis. Her inflammatory markers were in the normal range. So was her thyroid hormone level. (Many of the specific lab results can be found here.)
What was really strange about Ann’s case was that her symptoms would wax and wane. Her right eyelid would close. Then it would open again. Her face would droop — only on the right — and then it would go back to normal. Her doctors had many hypotheses about what might cause these unusual symptoms, but testing didn’t support any of them. She was discharged from the hospital and told to follow up with a neurologist as an outpatient.
A New Theory
She found a nearby neurologist, Adam Mednick. She brought in a timeline of her symptoms to help him see the full picture. (You can see Ann’s timeline here.) Given the patient’s waxing and waning symptoms, he thought that the most likely cause was a tear in one of the blood vessels going into the brain. When the inner lining of a blood vessel tears — something known as a dissection — the torn segment can flap back and forth, sometimes obstructing the flow of blood into the brain and sometimes leaving the vessel wide open. That kind of intermittent obstruction might account for her rapidly changing symptoms. He ordered an M.R. study with contrast to enhance the blood vessels to look for such an injury. He didn’t find it. All of the major vessels going into her brain were fine.
If not a dissection, the neurologist wondered if these changing symptoms could be from an atypical migraine. Ann had headaches, these strange palsies or episodes of paralysis, although they didn’t always happen at the same time, which made it a little less likely that a migraine was the cause. Beyond that, he wasn’t sure what she might have. But she was clinically stable, so he didn’t feel like he absolutely had to treat these odd paralyses until he had a more definitive diagnosis. (You can read Mednick’s thoughtful notes here.)
Meanwhile, the patient continued to limit her diet to liquids. She saw a gastroenterologist who performed an endoscopy that showed that Ann’s ulcer was gone, with only a small area of inflammation. A biopsy showed evidence of chronic reflux and the only abnormality found in this very thorough workup was that her gallbladder wasn’t working as well as it should. Although the gastroenterologist didn’t think this was the cause of the patient’s abdominal pain, she referred Ann to a surgeon to remove the poorly functioning gallbladder. And since Ann had no symptoms or stones, surgery to remove the gallbladder seemed to her to be unnecessary so she didn’t call.
Because the patient had symptoms but normal studies, the gastroenterologist suspected that Ann’s stomach and throat pain came from what is called a functional disorder. These are disorders that affect the way a body system works. Testing is normal; there is no structural or biochemical abnormality. But something about the way some system in the body works — in this case, the GI tract — causes the patient to have pain or discomfort.
This is not a psychiatric diagnosis; it’s not caused by stress, though, like many disorders, stress can make it worse. Our understanding of functional disorders is still inadequate. We basically have no idea why some people (nearly 25 million people in the United States) feel what they feel. These symptoms can disabling, however.
And they can often be improved with low doses of an old class of medicines called tricyclic antidepressants. Although these drugs were originally used to treat psychiatric disorders, the doses needed to treat functional disorders is a tiny fraction of what is needed to have any effect at all on a psychiatric disease.
To treat Ann’s stomach pains, the gastroenterologist started her on a tiny dose of one of these medications, nortriptyline. It took some time, but the medicine seemed to help. After a month, the burning in her chest stopped. The sharp stabbing pains disappeared. Slowly Ann was able to add solid foods, one by one, back into her diet. At this point, she’s able to eat a normal healthy diet and she has stopped losing weight. After a few months, Ann noticed that her joints didn’t hurt as much, and her headaches became rare and manageable. Even her facial droop, Ann feels, is a little better since she started taking the nortriptyline.
This medication has done so much more than either Ann or her gastroenterologist expected. As you can see, however, from the video, her facial droop remains a prominent symptom. (You can see the gastroenterologist’s notes here.)
Can You Help With the Diagnosis?
Have you seen anything like this? Do you know what might be causing Ann’s intermittent facial paralysis? Do you have any suggestions on how a definitive diagnosis can be made? If so, please let us know. Your suggestions will be shared with the patient, who will share them with her neurologist. Help us find an answer for Ann. Enter your comments below, and I’ll let you know what happens in the case as it develops. Please briefly describe your thinking. How a diagnosis is made is often as revealing as the diagnosis itself. Let’s see if we can figure this one out.
What’s Your Diagnosis for Ann?
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