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Medical Mystery: Why is this 4-year-old so often in the ER?

Interviewing the worried mother helped this pediatrician figure out why her son was sick so often.

Her young son’s recurrent fevers and other symptoms had his mother frightened for him, and angry she wasn’t getting answers from doctors.
Her young son’s recurrent fevers and other symptoms had his mother frightened for him, and angry she wasn’t getting answers from doctors.Read moreiStock

The mother of my 4-year-old patient was exasperated. "I keep getting told that he is getting repeat viral infections, but I know something else is wrong," she said, her facial expression vacillating between anger and fear.

This was the first time that I met this mother and her son, but before I entered the room I reviewed his chart. It revealed three emergency room visits in the last six months and two visits to an urgent-care facility close to her house, and each time the child had been diagnosed with a "viral syndrome."

"Viral pharyngitis" read one ER note. "Herpes stomatitis" read another. "Adenovirus infection" read another discharge note, which also described the child's "red tonsils with exudate, swollen lymph nodes, and an oral ulcer."

Each time the child went to a health-care center, he had a documented fever that ranged from 101 to 103. Strep cultures were done in a few cases, all with negative results. He was up-to-date on all his shots, and his growth chart showed ideal height and weight for his age, which was reassuring.

He was in day care, and studies have shown that children, especially those who are around many other children, can have up to eight viral infections a year, though it's generally the common cold. This mother was not having that as an explanation, and her intuition cemented her feet to the floor of our exam room until I came up with a satisfactory explanation and plan for her son.

Solution

Harvard psychiatrist and anthropologist Arthur Kleinman's theory of explanatory models proposes that individuals and groups can have vastly different notions of health and disease.  Kleinman proposed that health-care professionals should ask more "what" questions to elicit a patient's or parent's perspective of their illness, in addition to conducting a physical exam.

In my practice, I have shortened these questions, and here's how this concerned mother responded to each:

What brings you in today?

"I am frustrated that no one can figure out what's wrong with my son. He keeps getting high fevers and a sore throat, but no one can tell me what's wrong."

What have you been doing for his illness?

"I have been giving him Tylenol, which works after a few days, but the fever comes back again almost each month."

What do you think is going on?

"I don't know; that's why I'm here."

What worries you the most?

"I think something is wrong with his immune system, or worse."

What the mother told me, plus the child's record of repeated viral infections with fevers coming almost every six weeks, and then getting completely better after three or four days of illness, led me to my next question.

With each illness, in addition to the fever and sore throat, does he get cold sores? 

"Yes," she said, and I used the boy's weight to calculate the necessary dose of prednisone, a synthetic steroid that is an effective immunosuppressant drug.

Periodic fever syndromes are diseases that cause episodic fevers with no infectious cause such as a bacteria or virus. There are several types that can affect children with certain genetic backgrounds. Familial Mediterranean Fever is one such entity, but it affects mostly those of Mediterranean and Middle Eastern descent, and the accompanying symptoms tend to be stomach and joint pain. None of that fit my patient.

Other syndromes have even more complicated names and acronyms, such as TRAPS, HIDS,  and NOMID, but all of these have fevers accompanied by symptoms such as rashes and abdominal and joint pain, none of which my patient had.

Periodic fever, cold or canker sores (aphthous ulcers), sore throat (pharyngitis), and swollen lymph nodes (adenitis) – put it all together, and this otherwise healthy boy most likely had PFAPA Syndrome.

PFAPA Syndrome (periodic fever, aphthous ulcers, pharyngitis, adenitis) is probably the most common cause of recurrent fevers in children. First described by physicians at Vanderbilt University in 1987, this constellation of symptoms has yet to find a cause. But by carefully listening to parents (many families can predict when their child will become ill again) and keeping PFAPA Syndrome as a possible diagnosis, a physician can treat the patient and quickly resolve the symptoms with usually one or two doses of prednisone, and reassure parents that this disease usually will abate in a few months (though it can take years), but the episodes will decrease in frequency.

Medicine prescribed, I had one more question for this mom:

What questions do you have?

"What if this doesn't work?"

I assured her I would check in with her the next day, and when I did so, she told me he recovered so quickly, he was bouncing around in the morning, eager to tell his favorite teacher all about his condition.

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