September 9, 2009

Mystery Diagnosis: Jocelyn

In April, 2008, Jocelyn came in to my office complaining of chest pain. Most 8-year olds don’t complain of chest pain. There are lots of stomach aches, occasional headaches. Many, many minor injuries from active play. Chest pain doesn’t occur to them. Her parents feared there was a problem with her heart.

In children, chest pain is almost never heart-related. The heart is made from powerful muscle, and it’s working constantly. Adult heart rates are about 80 times a minute. Kids can be well over 100; when they are running around, much higher than that. With active children, it often works even harder. When adults get heart-heartrelated pain, it’s almost always because the heart muscle isn’t getting all the blood it needs to meet its demands. Activity increases the demands on the heart, and the chest pain usually gets worse. In Jocelyn, if there were something wrong with the heart’s blood supply, she would have had to have been born with the problem. So it would have shown up before now. Still, I asked her some basic questions. The pain didn’t come with activity. It never caused her to stop what she was doing and rest. She had no problems breathing, even when playing soccer. Her chest didn’t hurt during activity, but her pain was worst on the nights of her most active days.

She wasn’t sick in any way. She had no rashes. She denied any falls or collisions with other people or objects. Nobody hit her. None of her joints hurt or were red or swollen. She had no headache. Her mother confirmed that she was acting just as usual. Which was always enjoyable for me. Even at 8, she seemed like she was going on 18. Unusually articulate and good-humored, she had an endearing confidence and an uncanny ability to participate in adult conversation as a peer.

I had been Jocelyn’s doctor for years. I knew her well and knew that she was very intelligent. She didn’t have anxiety, but she was worried that this could be her heart. She told me so.

Everything in her physical exam was normal. I listened for a long time on her chest and back with my stethoscope. I didn’t think it was her heart, and told her so as gravely as I could. She seemed relieved.

I asked her to stand and do the following maneuver. I had her hold her hands together behind her back with her arms completely straight. thorax3Then lift the hands as far as she could. This hurt her chest! I asked her to do it again, but this time I pressed gently on the spots where her sternum (breastbone, shown in green in the picture (but not green in real life)) meets her ribs. This hurt a lot.

Her diagnosis was costochondritis, an inflammatory condition of the joints where the ribs meet the sternum. (Yes, it’s considered a joint because it moves, every time you take a breath.) It’s usually treated with anti-inflammatory medicines, like ibuprofen, and rest.

It went away just as I had predicted. A couple of months later it happened again. At one point, I ordered a chest x-ray. it was cxr normal. Since April of 2008, I have seen her 4 or 5 times for this problem, and dealt with the problem over the phone another half-dozen times. Why does she keep getting this?

In March of this year, I did an extensive panel of blood tests to look for possible diagnoses. All of them are unusual in someone her age, but all remotely possible. Immune deficiencies, Rheumatoid Arthritis, Lupus.

Then, this Spring, she had the pain—and her knee hurt at the same time. It was so intense this time that she was crying and didn’t want to get out of bed. I rushed through an insurance bone scanauthorization request for a bone scan. In a bone scan, radioactive technetium-99 would get injected directly into her bloodstream. It is taken up by her bones, and concentrates in areas of disturbance such as infection, inflammation, and cancer. Special photography (not too different from the cathode-ray tube of an old-fashioned television set) is used to capture the radioactive hot spots. I hoped that the bone scan would show areas of increased bone activity and provide a clue to her diagnosis. From that, I could fashion a treatment, or at least know what specialist to send her to.

It was completely normal.

I’m not completely back to square one. I now have a pretty long list of diseases and conditions nobody would want to have that she probably does not have either.jocelyn growth curve2

I’ve been thinking about her growth. As I pointed out, she’s really smart and developmentally precocious intellectually. Physically, she’s developmentally normal except for her short stature. Is there something wrong with her growth? Are her bones growing unevenly or in a way in which there are subtle pressures concentrated in the center of her chest? How can I tell? In past years, I’ve sent her to both an endocrinologist (to look at growth hormone issues) and an orthopedist (to look at bone and joint issues), but they said she was normal. Who do I ask now?


  1. your mystery dianogsis posts always remind me of the TV show House. It's so interesting!

  2. I would love to find out the final diagnosis for this little girl, because I am a 32 yr old woman with seemingly the same situation as she.
    However I have many, many other symptoms all autoimmune like. And my Doctors have no concreat answers for me. Thus no treatment. I wonder if she has Periphial Neuropathy and doesn't pay attention to it, because I do and I ignored it until it hit my face. Also I have degeneration in my shoulders but there is no particular reason to attribute this to. Thanks for posting! I'll keep a watch for further update's. P.S. Thank you for being a Doctor who goes beyond himself and a paycheck for the care of his patients!


Please let me know what you think. Do you know a child or situation like this?