Mystery case: jaw swelling and pain

Can you solve the mystery of a girl with unexplained episodes of jaw swelling and pain?  In this series, I will present the case of a patient I recently saw in clinic.  I will provide details of her history, physical exam, and medical tests.   Your job is to think like a doctor and answer the two questions below.  

The first person to answer the questions correctly will win a $5 Starbucks card.  You have until 3pm on Thursday, April 17 to provide your answer.  I will keep the answers hidden until then.  Come back on Thursday, or subscribe to this blog, to see the correct answer and see if you’ve won!

Details regarding the patient’s history and exam have been changed to protect  the patient’s confidentiality.

Imagine you’re a 13 year-old girl.   Your main worries in life are classes, boys, and your soccer team.  Over the course of a few days you develop pain and swelling in your jaw.  You think it may be related to a toothache, or you vaguely remember being hit by a soccer ball during practice, so you take Tylenol for pain.  The pain and swelling go away after a few days, and you get back to your life.

A few weeks later, the pain and swelling return.  This time you’re annoyed.  You don’t remember any soccer balls landing anywhere near your head.  You show your mom the jaw swelling, and she takes you to your pediatrician.  He thinks it may be a tooth infection and prescribes you antibiotics for a week.  Within a few days, you’re back to business as usual.

A week before your class trip to Washington DC, the pain and swelling in you jaw returns, in exactly the same location.  Medications don’t help much.  You visit your doctor, who is  concerned about a serious infection, and he orders an MRI of your jaw.  The results are frightening: there seems to be something chewing up your bone.  Could this be cancer?  An antibiotic-resistant bacteria?  The only way to find out is to have surgery to remove a small piece of the bone and examine it in the laboratory.  Thoughts of dying before ever having your first kiss enter your mind.

You miss your trip to DC, and instead spend several days in the hospital after your surgery.  Looking at the bone through a microscope reveals a lot of white blood cells (neutrophils, monocytes, macrophages),  but no evidence of cancer.  What are all those cells doing there?  Nobody knows.  They suspect an infection, but bacteria are not seen under the microscope.  A piece of bone is sent to the microbiology lab, where it’s given a warm environment with plenty of food for bacteria.  Days go by, but no bacteria is ever found.

“Maybe the bacteria didn’t like the food we gave it” a doctor says.   “Maybe the bacteria is difficult to grow in the lab,” another wonders.  In any case, you get treated for a presumed infection (what else could it be?) with several weeks of intravenous antibiotics.  You improve.

Several months go by, and you’re fine.  “The antibiotics must have done the trick,” you think to yourself.   But just before you leave for summer camp, the pain and swelling return.

Over the next few years, you continue to have episodes of jaw pain and swelling.  Nobody knows why.  Over time, your jaw becomes disfigured, and you begin  wearing your hair over the right side of your face, to cover up the asymmetry.  Every time you have an episode, your doctor prescribes you more antibiotics.  You have a second bone biopsy, just in case, which again reveals a lot of inflammatory cells, but no evidence of cancer or infection.

You are 18 years old when you finally see a rheumatologist.  You have had five years of episodes of jaw swelling and pain, which nobody has been able to  diagnose.  You have seen many doctors, had many tests, but received no answers.   The rheumatologist listens to your story closely, examines your jaw, notes the increased growth over your right mandible, and looks at the results of your bone biopsy.  The rheumatologist makes a diagnosis and starts appropriate treatment.

1. What is the correct diagnosis?
2.  What treatment would you start?

UPDATED: Thursday, April 17, 3pm.  Thanks for all your responses!  Read about the winning diagnosis here.

14 thoughts on “Mystery case: jaw swelling and pain”

  1. Juvenile idiopathic arthritis. Start with localized steroid injections, then methotrexate if that doesn’t work. After about age 18, possible Le Fort jaw surgery.

  2. COrrect diagnosis:
    Chronic Recurrent Multifocal Osteomyelitis

    Treatment: NSAIDs; if not effective, consider bisphosphonates, anti-TNF treatment or IL-1 receptor antagonist (anakinra or canakinumab)

  3. 1. JIA, oligoarticular (just curious if she has other systemic sx)
    2. NSAIDs, may consider intra-articular steroid injection.

    1. oops, i was wrong, the pathologic manifestations of JIA is synovitis rather than wbc infiltration into the bone. glad to know another disease but not sure if I’m going to see a real pt with this in future.

  4. Dx: Juvenile Idiopathic Arthritis

    Treatment should be aggressive with this much damage already. Start on TNF inhibitors like Enbrel, and consider adding Methotrexate.

  5. Thank you. She just had her 2nd dose of enbrel. She is on sq mtx. Her other meds include mobic, pred, and folic acid. At this time she continue to flare. I can’t get her off the pred. I’m hoping to see the enbrel begin to work. Otherwise I don’t know what else we can do for her. She is 9.

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