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Pediatric gastric syndrome turns out to be Addison's


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December 16, 2007


Gut Problem




?I?m sorry, Nonnie,? the slender 9-year-old girl said. ?I tried to get to the bathroom.? She was pale, her lips trembled and her thin face was streaked with tears and vomit.


?Don?t you worry about it, baby girl.? Her grandmother?s soft twang was as warm as a hug as she quickly wiped down the floor. ?You can?t help it when you?re sick.?


And she had been sick ? for nearly six months. Last March, the child got some kind of terrible stomach bug. Her grandmother, with whom she was currently living, called the pediatrician. He said there was a flu going around and that she would probably be fine in a day or two. But over the next several days, nothing the little girl ate or drank would stay down. When she didn?t get better, the grandmother took the child to the doctor?s office. After one look at the girl, he sent her to the emergency room at a local hospital. The doctors there had her airlifted to Children?s Hospital in nearby Birmingham, Ala.


The girl was badly dehydrated and spent the better part of the next week in the I.C.U. It seemed as if they ran a million tests, her grandmother told me. But none of them gave the doctors the answer they sought. They sent her home.


After a couple of days, the girl was fine ? running, laughing, playing with her little brother, eating as if there were no tomorrow. But a few weeks later, the nausea came back, and so did the vomiting and diarrhea. She went back to the pediatrician. He said it was probably a virus, but a couple of days later she ended up in a nearby hospital again. It was a cycle that was repeated many times over the next several months.


In July, the pediatrician sent her to a gastroenterologist. Initially, he thought it might be Crohn?s, a disease in which the immune system turns on the delicate tissue of the digestive tract. But a colonoscopy showed that her intestines were completely normal. Dozens of blood tests and several CT scans were also unrevealing. It wasn?t an intestinal obstruction or lactose intolerance. It wasn?t an ulcer. Meanwhile, the child grew thinner and thinner.


2. Investigation


And now half a year after this all began, she was sick again, just two days after leaving the hospital. Her grandmother called the gastroenterologist. He suggested an M.R.I. ? not of her stomach but of her brain. Whatever it was that was causing this nausea, he told her, it wasn?t in her gut. Although unusual, a brain tumor can cause symptoms like this. And so she went to the hospital once more, this time one in Huntsville.


It was almost midnight by the time Dr. James Morrison, a family-practice intern, had a chance to examine the girl. When he entered the room, the child was asleep. Her grandmother sat next to her stroking her head. Her mother was also there, asleep on the extra bed.


The girl was terrifyingly thin. The fat that normally rounds out the boney angles of the face was completely gone. Her tangled dark blond hair was dull, almost colorless. A slender arm lay over the blanket revealing little muscle and no fat.


The young doctor reviewed the child?s history with her grandmother. When he tried to wake the little girl, she pushed him away ? reluctant to even open her eyes. Once awake, she cringed at his every touch. Was she simply tired of all the doctors she had seen, the intern wondered, or could this be evidence of some kind of abuse?


When a patient has been sick for this long and had this many inconclusive tests, a physician must shift his thinking from the common causes of such symptoms to the zebras, the rarities. The gastroenterologist had suspected a brain tumor. The emergency-room doctor in Huntsville told Morrison that he wondered about the child?s broken family. The little girl was living with her grandmother while her mother struggled to kick an addiction. But her mother was home now. Was she home because her child was ill ? or was the child ill because her mother was home? The doctor in the E.R. suggested that Morrison test the child?s urine for ipecac, an over-the-counter medication that causes vomiting.


Gently, carefully, Morrison began examining the anxious, emaciated child. Her heart rate was normal and her lips and mouth moist ? thanks to the intravenous fluids she had been given in the E.R. In fact, the entire exam was normal except that she appeared to be starving.


Could this be an eating disorder? Morrison wondered. He examined the girl?s hands closely, looking for the telltale calluses that could indicate chronic self-induced vomiting. The skin was smooth and unmarked. The knuckles, though, were dark. Was this dirt? Closer inspection revealed that her skin was simply heavily pigmented there, suntanned. Then he noticed that the underside of her arm was just as tanned as the skin on the top. That was unusual. She wasn?t deeply brown, but her skin was darker than he would expect with her light-colored eyes and hair.


Given how sick the girl had been, it was hard to believe that she had spent much time outdoors that summer. What if the increased pigmentation wasn?t due to sun exposure, the intern thought. He looked at her back. There were no tan lines. In fact, she appeared dark all over. Maybe, just maybe, this was the clue that could help him solve this mystery.


He settled the child back in her bed and turned again to the grandmother. Had any of the doctors they had seen ever mentioned problems with her blood work, any problems at all? She thought for a moment. Well, once when the girl was in the hospital back home, a doctor said that the girl?s sodium and sugar were low.


That was what the intern was looking for! Although he could feel his heart pounding with excitement, Morrison forced himself to go over the plans calmly for the next day with the girl and her grandmother. Then he slipped out of the room.


3. Resolution


The medical student assigned to the case was waiting for him at the nursing station. Do you think it?s a brain tumor? she asked. ?Nope. I am 99 percent certain that this child has Addison?s disease.?


In Addison?s disease, the immune system mistakenly attacks the thumb-size adrenal gland that sits on top of each kidney and is the source of the ?fight or flight? hormones, adrenaline and cortisol. As a result, the body is unable to respond to any kind of physical stress. When the body is taxed by illness, exertion or even fatigue, Addison?s patients become increasingly sick, often developing nausea, vomiting and diarrhea. Without coritsol and adrenaline, the brain floods the body with chemical messengers trying in vain to stimulate the destroyed glands. This flooding can cause the skin to darken.


The adrenal glands also make hormones that control the amount of sodium, potassium and glucose in the body in times of stress, which could explain why her levels of these important blood chemicals had been abnormal that time in the hospital. But because these chemicals are also affected by vomiting and diarrhea, the abnormalities may have been noted but their true significance unrecognized.


Morrison immediately ordered a test to measure the cortisol in her blood. If she had Addison?s, it would be very low. The result was back within hours: the cortisol level was undedectable.


The next day the girl was started on hormones to replace those she no longer made. The nausea disappeared within hours. The vomiting stopped, and she began to eat. When I spoke to her recently, she proudly reported that she had gained 12 pounds since starting the medicine in September.


A simple, almost trivial observation ? the darkened skin? led Morrison to make a diagnosis that stumped others for months. Far too often, when confronted with a patient whose illness has eluded diagnosis, doctors look to the medical literature rather than looking at the patient for their answers. Sir William Osler, the 19th-century doctor considered by many the father of modern American medicine, recognized this ancient tendency. ?We miss more by not seeing,? he once wrote, ?than by not knowing.?





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Copyright 2007 The New York Times Company

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Thanks so much for posting this. My friend's son has a mystery illness and has gone 7 yrs without a diagnosis. It sounds very much like what this little girl went through. He is being tested for Crohn's right now. He is very thin and can't go to school. I have been telling her to get his cortisol tested, and maybe this story will convince her to get it checked.

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When I was young, I had two instances where I suffered from uncontrollable diarrhea and vomiting. Both times I ended up in the hospital---in the "isolation ward", where I was given iv's to counter the loss of fluids.


I'm convinced that I suffered from some sort of adrenal insufficiency---although there is no way I can prove it. I was extremely thin compared to other kids my age, I craved salt, and had episodes of severe muscle cramping in my legs.


I also "tanned" easily. I couldn't ever figure out how when I got older---that I burned when I was out in the sun a lot. This had rarely happened when I was a kid. I used to think it was due to the reported hole in the ozone or because a medication I was currently taking made me more photosensitive. Just another odd piece of a puzzle.


Earlier this month, my new pcp agreed that I may have suffered from "hormone" problems since I was a kid. It's great that doctors are becoming more aware of these kinds of problems.

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