“You might have had a stroke,” the doctor stated to Ann, a 44-year-old woman. “The right side of your face is paralyzed.” Ann nodded, acknowledging the doctor’s diagnosis, which aligned with why she had sought medical advice earlier that day.
That morning began with an excruciating headache, the worst she had ever experienced. The pain originated at the back of her head, radiating down her neck and into her right shoulder. Her right jaw had been intermittently painful for three months, but that morning, the pain intensified. She contacted her dentist, who had recently provided her with a night mouth guard, but it offered no relief. As she attempted to describe her escalating symptoms, Ann noticed her speech sounded strangely slurred.
Following the call, she rushed to the bathroom mirror to assess the cause of her altered voice. The reflection staring back was unfamiliar and unsettling. Her face was noticeably lopsided and asymmetrical. The right side appeared flattened, as if deflated. The natural curve of her lip was absent, and the corner of her mouth seemed to droop downwards. When she forced a smile, only the left side of her face responded, while the right side remained immobile.
Concerned, she immediately contacted her doctor and secured an appointment for that afternoon.
The Onset of Multiple Health Issues
For the preceding year, Ann had felt besieged by a series of perplexing medical problems. Thirty years prior, she had been diagnosed with diabetes, which she managed effectively with an insulin pump. She had addressed earlier weight issues through improved diet and regular exercise, maintaining a generally healthy and active lifestyle until the previous year, when she began experiencing severe burning pain and pressure in her throat and stomach after eating.
Initially diagnosed with heartburn, or reflux, and a gastric ulcer, Ann was prescribed acid-reducing medication and Carafate to protect her stomach lining. Subsequent scopes showed improvement in the reflux and ulcer, yet her pain persisted. In recent times, consuming solid foods became excruciating, leading her to adopt a liquid diet four months prior, which offered some pain relief.
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Then, a new discomfort emerged. The right side of her jaw, near the joint, became stiff and achy. She speculated if this was due to weakened jaw muscles from her liquid diet or nighttime teeth grinding. Consulting her dentist, she was told it was likely a Temporomandibular joint (TMJ) issue, and was given a bite guard. However, this provided no relief, and the pain, initially intermittent, was becoming increasingly persistent but still manageable.
Over the following weeks, the jaw pain intensified, evolving from intermittent to constant and impacting her ability to chew and even open her mouth.
Finally, she revisited her dentist, who, upon examination, noted a jaw misalignment. He took dental impressions and referred her to an oral surgeon. The surgeon concurred on the slight bite discrepancy but deemed intervention unnecessary. (An X-ray of her jaw can be seen here, illustrating the dentist’s and surgeon’s assessment.)
As Ann’s jaw pain escalated, so did her headaches. Then, an even more peculiar symptom surfaced. Periodically, her right upper lip would become flaccid. It was painless – unlike most sensations on the right side of her head – but strange and sometimes affected her speech. This occurred a few weeks before the complete paralysis of the right side of her face.
Stroke or Bell’s Palsy?
Her doctor’s concern was immediate upon observing Ann’s facial asymmetry. Unilateral facial paralysis is frequently attributed to Bell’s palsy, a temporary condition affecting one side of the face, often caused by damage or trauma to the facial nerves.
The facial nerve, or seventh cranial nerve, traverses a narrow bony canal in the skull, just below the ear, facilitating communication between the brainstem and facial muscles. This nerve controls muscles responsible for blinking, facial expressions, tear production, and taste sensation. In Bell’s palsy, facial nerve function is disrupted, impeding communication between the face and brain, resulting in facial weakness or paralysis.
Current medical understanding suggests viral infections, such as upper respiratory infections or herpes simplex, are common triggers for this nerve injury. Viral infection can cause nerve swelling and compression within the bony canal, damaging the nerve or its myelin sheath. Other potential causes of Bell’s Palsy, named after Charles Bell, the 19th-century surgeon who identified the facial nerve, include trauma, Lyme disease, tumors, hypertension, influenza, or other respiratory infections. Diabetes, as in Ann’s case, is also a recognized risk factor for Bell’s Palsy.
Conversely, Ann’s well-managed diabetes also increased her susceptibility to stroke. The question remained: Which was it? Her doctor was uncertain. While Bell’s palsy seemed more probable, he recommended a hospital visit to rule out more serious conditions. (Her primary care physician’s notes are available here for review.)
A Troubling Journey to the Emergency Room
Ann drove herself to the local medical center. Initially, there was no reason not to, having driven herself to the doctor’s office earlier. However, en route, her right eye suddenly closed shut, and she was unable to reopen it. Driving with one eye became challenging and alarming. Upon reaching the emergency room registration, she experienced a loss of control in her right hand, resulting in a shaky and illegible signature. Her right leg also felt weak. She was assisted into a wheelchair and taken to the treatment area.
The progression of Ann’s neurological symptoms beyond facial paralysis concerned the medical staff, leading to her hospital admission. A neurologist evaluated her in the emergency room. (The ER notes can be accessed here.) She remained hospitalized for five days while the medical team investigated the cause of her unusual symptoms.
Extensive testing was conducted. A head CT scan and MRI yielded unremarkable results, excluding stroke and tumors. A lumbar puncture returned normal, ruling out infection or malignancy. Lyme disease, myasthenia gravis, multiple sclerosis, and Sjogren’s syndrome were eliminated. Pregnancy, HIV, and syphilis were also ruled out. Inflammatory markers and thyroid hormone levels were within normal ranges. (Detailed lab results are available here.)
A particularly perplexing aspect of Ann’s case was the fluctuating nature of her symptoms. Her right eyelid would close and then reopen. Facial drooping on the right side would appear and then resolve. Despite numerous hypotheses, no tests provided conclusive answers. Ann was discharged and advised to consult a neurologist as an outpatient.
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Exploring a New Vascular Theory
Ann sought a neurologist, Dr. Adam Mednick, providing a timeline of her symptoms to give a comprehensive overview. (Ann’s timeline can be reviewed here.) Considering the waxing and waning nature of her symptoms, Dr. Mednick suspected a tear in a blood vessel supplying the brain, known as a dissection. A dissection occurs when the inner lining of a blood vessel tears, creating a flap that can intermittently obstruct blood flow, potentially explaining her fluctuating symptoms. He ordered an MRI with contrast to visualize blood vessels for such an injury, but the results were negative; major brain vessels appeared normal.
If not a dissection, Dr. Mednick considered atypical migraines as a possible cause of her fluctuating symptoms. Ann did experience headaches and paralytic episodes, but they didn’t consistently coincide, making migraines less likely. Beyond these possibilities, the diagnosis remained elusive. Given her stable clinical condition, Dr. Mednick opted to defer treatment for the paralyses pending a definitive diagnosis. (Dr. Mednick’s detailed notes are accessible here.)
Meanwhile, Ann continued her liquid diet. A gastroenterologist performed an endoscopy, revealing a healed ulcer with minor inflammation. Biopsy results indicated chronic reflux, and the only identified abnormality was reduced gallbladder function. While the gastroenterologist doubted the gallbladder as the source of her abdominal pain, she referred Ann for surgical removal. However, lacking gallstone symptoms, Ann deemed surgery unnecessary and did not pursue it.
Considering normal test results alongside persistent symptoms, the gastroenterologist suspected a functional disorder, affecting the way her gastrointestinal system operated. Functional disorders are characterized by normal structural and biochemical findings despite symptomatic distress. The underlying mechanisms remain poorly understood, but these disorders can cause significant discomfort.
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Functional disorders are not psychiatric conditions, although stress can exacerbate symptoms. Understanding of these disorders remains limited, with millions affected in the US alone. Symptoms can be debilitating, but sometimes improve with low-dose tricyclic antidepressants, originally used for psychiatric conditions, but effective in much smaller doses for functional disorders.
For Ann’s stomach pain, the gastroenterologist prescribed a low dose of nortriptyline. Gradually, the medication provided relief. Within a month, chest burning subsided, and sharp pains diminished. Ann slowly reintroduced solid foods into her diet and regained lost weight. Over time, joint pain and headaches also lessened. Ann even perceived a slight improvement in her facial droop since starting nortriptyline.
This medication had broader benefits than anticipated. However, as shown in the video documentation (not included in this text), her facial droop remains a noticeable symptom. (The gastroenterologist’s notes can be accessed here.)
Seeking a Diagnosis for Ann’s Condition
Have you encountered similar cases? Can you identify the cause of Ann’s intermittent facial paralysis? Do you have suggestions for reaching a definitive diagnosis? Your insights are valuable. Please share your thoughts, which will be conveyed to Ann and her neurologist to aid in her ongoing medical journey. Describe your diagnostic reasoning – the diagnostic process is often as illuminating as the diagnosis itself. Let’s collaborate to find answers for Ann. Share your comments below, and I will update you on the case’s progress.
What’s Your Diagnosis for Ann?
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