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Medical mystery: Trusting a mother's instincts

At first glance, the most remarkable thing I could see about my 15-year-old patient was that he and his mother had waited for hours in the ER because he had a rash, about the size of a bottle cap, on his face.

With such a seemingly minor issue, he had to wait a long time on this busy winter afternoon while others were triaged before him.

The rash, which he'd had for three months, didn't seem like an emergency to me, but his mother thought differently.

"I have seen his doctor twice already for this rash and each time he said it was ringworm and prescribed antifungal creams, but they haven't been working," she exclaimed. "I think it's something more."

Her son, obviously not wanting to be there, shook his head.

Like ringworm, this rash had the red border, it was scaly, and it was round. But I've learned to trust a mother's instincts, and asked why she was suspicious.

"I don't know," she said, hesitating. "He's just acting different, more tired, less active, and his belly looks a little larger."

Enlarged belly? Fatigue? Could he have a few separate issues?

But I also knew that when a patient, particularly a child, has multiple symptoms, there's usually a single reason behind all of them. What was it for this boy?

The solution:

I had the boy lie down on the exam table and lifted up his shirt. His belly was distended and full of excess fluid, an uncommon and ominous sign in any patient that usually signals kidney, heart or liver failure. His heart exam was normal and his skin and eyes were not yellow, which happens with liver problems.

That left kidney failure, which was confirmed by lab tests.

The cause? Systemic lupus erythematosus, an autoimmune disease that sometimes affects the kidneys as well as other vital organs.

In lupus, the immune system attacks the body's own healthy cells and tissues with blood proteins called autoantibodies. These proteins trigger the immune system to join in causing inflammation and damage to healthy organs. In the United States, the disease affects an estimated 7,500 children. Unfortunately children under 18 usually have more severe symptoms and damage to vital organs, compared with adults.

This boy's rash turned out to be one of the criteria for diagnosing lupus. Sometimes people get just the rash, called discoid lupus, but 17 percent do progress to full-blown disease.

He spent more than three weeks in the hospital to get his kidney disease and other problems associated with his lupus under control. At follow up, he was still on several medications to tamp down inflammation and support his kidneys, and had missed several months of school. His initial rash had diminished, but one could still see the faint ring that heralded his battle against this aggressive disease.

Daniel R. Taylor, D.O., is an associate professor at the Drexel University College of Medicine and director of community pediatrics and child advocacy at St. Christopher's Hospital for Children.

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