It wasn’t until the 11-year-old athlete made it to the finals in a regional synchronized-skating competition that her left knee started to hurt. She’d performed at least one of her routines every day for the past three days, and now a stabbing pain shot through the joint with her every move on the ice. “Please don’t tell the coach,” she pleaded as her mother handed her the ibuprofen she’d asked for.
The mother watched as her daughter performed the routine she’d worked on so hard. Knowing she’d needed ibuprofen before skating, she worried: How long had she been in pain?
The girl and her team won their age group. It was a great moment — something they’d worked hard to achieve. But her mother couldn’t forget that acknowledgment of pain. “You’re going back to see the orthopedic surgeon,” she told the girl, “just as soon as we get home.”
X-Rays, M.R.I.s and Antibiotics
It all seemed way too familiar. Nearly a year earlier, the young girl had complained about a pain in her knee after skating practice. She hadn’t fallen. There was no bruise. But she told her mother it felt as if there were a hot knife twisting deep in the joint. Mother and daughter both figured it would get better — these aches and pains usually did. But after a couple of weeks, the mother noticed her daughter was starting to limp, so she called Dr. Audra Schweitzer, her pediatrician and the mother’s childhood friend. Schweitzer in turn sent them to an orthopedic surgeon.
At the surgeon’s office, an X-ray of her knee was done before she even met the doctor. It was routine, they told mother and daughter. The results, however, were not. The orthopedic surgeon pulled up the image on the computer to show them. On the bottom of one of the thighbones, at the upper edge of the knee joint, was a small pale spot — as if some bone were missing — surrounded by a rim of bright white. It didn’t look like much, but it could be something quite serious, the surgeon told them — possibly an infection in the bone, but possibly something even worse, like cancer. Could they come back the next day for an M.R.I.?
The M.R.I. results were no more reassuring. The bone and surrounding tissues were an abnormal bright white, indicating swelling. She would need a biopsy of that bright patch.
When the phone call came reporting that it wasn’t cancer — but could be some kind of infection — the mother almost wept with relief. The girl was already on broad-spectrum antibiotics. The coverage would be narrowed when the culture revealed what sort of infection they were dealing with. But strangely, no bacteria grew from the tiny sample of bone. Still, an infection was the most likely cause of her pain. Up to 20 percent of these bone infections can have a negative culture result. But, Schweitzer said, there was another possibility; she’d seen it once before. It was an inflammatory bone disease — a disorder that looked like an infection but wasn’t. But that was really rare. A bacterial infection was far more likely.
The young athlete took the antibiotics for more than two months. She was able to skate again, though she often had to take ibuprofen before practice. Over time the pain disappeared, and a repeated M.R.I. done after six months showed near total resolution of the abnormality in the bone. As far as her mother knew, she’d been fine ever since — until that day at the competition.
The Pain Returns
How long had she been having this pain? her mother asked, as they drove home from the competition. The girl hesitated before she answered: a while.
The orthopedic surgeon ordered another M.R.I. The old site of injury looked better, but there were two new bright spots nearby. Was this an infection that had spread despite the antibiotics? Or was this a cancer that they missed with the first biopsy? She’d need another bone biopsy, the oncologist told them. And a bone-marrow biopsy as well.
The tests were scheduled for the following week. Waiting was brutal. The mother wasn’t big on prayer, but she found herself trying to make a bargain with the future. Her daughter had been asking for a dog her entire life. The mother didn’t much care for animals, but if this wasn’t cancer, she would immediately get the girl a dog.
When the day finally came, the biopsy showed no cancer. As they waited to hear if it was an infection, mother and daughter set out in search of a puppy.
More Confusion
Days later the infectious-disease doctor called with the news that, once again, the tiny bone fragment showed lots of white blood cells — as if there was an infection in the bone — but no bacteria. The mother called her friend, Dr. Schweitzer, who, she reports, said that it could still be an infection, though she was starting to worry that it really was this rarity she’d mentioned before: an inflammatory disease of the bone called chronic recurrent multifocal osteomyelitis, or C.R.M.O. She referred the girl to Dr. Lisa Imundo, director of adolescent rheumatology at Columbia University Irving Medical Center.
Imundo reviewed the girl’s records before she and her mother came for their appointment at her Westchester office. After hearing the story from mother and daughter, Imundo had some additional questions. Had the girl had any problems with her stomach? Pain after eating? Diarrhea? C.R.M.O. is sometimes associated with inflammatory bowel disease. No, they said. Any rashes? C.R.M.O. can also be seen alongside some types of psoriasis. No rashes either. A physical exam showed no joint abnormalities — no redness or pain with movement. But when Imundo pressed the spot she knew to be affected, the girl winced. It hurt.
Imundo told them that she thought Schweitzer could be right: It might be C.R.M.O. She had three visible lesions on her knee, but patients with this disorder often have lesions in other places that weren’t yet causing pain. Because these lesions may be too faint to show up on X-ray, the only way to see them for sure is with a whole-body M.R.I. It’s a tough test because it can take hours to get images of the entire body. But it would be important in confirming the diagnosis and to see the results of treatment.
The following week, the girl had the M.R.I. She had to lie absolutely still for a total of six hours over two days. The image showed lots of lesions. She had the ones on her left knee that she already knew about, but there were also lesions on her right knee, on her ribs, on her spine and pelvis. There is no definitive test for C.R.M.O., but repeated negative cultures and the results of the biopsy and M.R.I. were consistent with the diagnosis.
Back on the Ice
C.R.M.O. is an autoinflammatory disease — and a rare one. While there have most likely been fewer than 1,000 cases reported worldwide, Imundo suspects it is frequently overlooked and underdiagnosed. In her own practice, she is currently caring for nine patients with the disorder. In this poorly understood disease, the body suddenly responds as if there is an infection, even though none is present. Patients often have fever and pain. C.R.M.O. usually occurs during times of intense growth and is most common in girls ages 7 to 12. Although painful and sometimes destructive to the bone, C.R.M.O. usually resolves on its own after a few years.
Imundo started the girl on a medicine known as Indocin, or indomethacin, an anti-inflammatory drug. It got rid of much of the skater’s pain, but a new lesion appeared. So Imundo put her on a powerful immune-suppressing medication called adalimumab. She has been on it for nearly two years, and all her lesions have disappeared. Eventually, Imundo will try to taper her off the medication.
These days the patient is pain free, and if it weren’t for the twice-monthly injections, she could completely forget about her disorder. It certainly hasn’t kept her off the ice. Earlier this year, she entered her first national figure-skating competition and took home the gold.
Source : Nytimes
