For the past nine years, the Diagnosis column in The New York Times Magazine has presented hard-to-crack cases that were eventually resolved. Many readers have told me that they figured out the diagnoses before the answers were revealed. Often, these sleuths aren't doctors, but just folks who simply enjoy a good mystery.
Now I'm going to try something new, giving all you medical detectives a chance to think through a difficult case and solve the diagnostic dilemma yourselves. Below you'll find a summary of the case. Over the course of the day, I will try to answer any questions that come up, and I may even offer a few hints along the way. The first reader to figure out this very tough case gets a signed copy of my book, "Every Patient Tells a Story," along with the deep satisfaction of solving a real mystery.
So get ready to channel your inner "House," and let's get started.
The Presenting Problem: A 10-year-old girl is losing her hair.
The Patient's Story:
A healthy 10-year-old girl noticed that she was losing a lot of hair every time she showered. She mentioned this to her mother several times over a few months. The mother didn't see any change in her daughter's hair until one morning when she was putting her child's long blond hair into a ponytail, and saw for herself how much hair remained on her hands after this simple procedure. Watching her child get on the school bus later that morning, the mother noted that her daughter's hair seemed much thinner. Worried, she made a doctor's appointment for later that day.
The Doctor's Exam:
Dr. Kathryn Italia, a pediatrician in Exton, a suburb of Philadelphia, had been the child's doctor for several years. The girl's chart showed that she was rarely ill. After hearing the mother and daughter's story, Dr. Italia asked about other symptoms. Had she had any fever or chills? Had her appetite changed? Did she have pain anywhere? Any rashes or skin changes? No, the mother responded, though she thought her daughter might have been a little more tired lately.
Dr. Italia examined the child. She appeared healthy. Her hair was fine but didn't seem exceptionally thin. There were no bare patches on the scalp. The rest of the exam was likewise unremarkable. Dr. Italia felt that it was important to get some studies to further evaluate this unusual complaint.
Possible Diagnoses:
Thyroid disease: Disorders of the thyroid frequently cause hair loss. Order a test to measure T.S.H., a thyroid hormone.
Lupus: Lupus or another immune-system disorder in which the body wrongly attacks its own tissues can sometimes cause hair loss. Order a test measuring sedimentation rate (which looks for signs of an overactive immune system) as well as a blood count to look for anemia or abnormal white-cell counts.
A metabolic disorder: Disruptions of any of the multiple processes the body uses to get energy from food could be responsible for hair loss. Order a test to check blood chemistry, liver function and kidney function. Any metabolic disorder is likely to show up as a disturbance of one of these basic body functions.
Lab Results:
You can view some of the patient's laboratory test results here: the complete blood count with differential (which quantifies the number of red and white blood cells and platelets in a sample) as well as the liver enzymes. All the tests were unremarkable except for two liver enzymes (called A.L.T. and A.S.T.) usually seen after an injury to the liver. Both were four times higher than normal.
The Follow-Up:
Dr. Italia ordered an ultrasound of the liver and a repeat of the liver-function test after two weeks. (A mild viral infection can frequently cause a transient elevation in these enzymes that resolves on its own.) Additional tests were ordered to look for other common infections and diseases that cause abnormal liver enzymes in children: Epstein-Barr virus (the infectious cause of mononucleosis) and viral hepatitis; evidence of immune-system diseases, including autoimmune hepatitis, a rare condition in which the white blood cells mistakenly attack the liver; and the presence of celiac disease, a more common disease in which the immune system attacks the small intestine in response to a food component known as gluten.
You can view more of the patient's laboratory test results here: the test for celiac disease and a viral hepatitis test.
Additional Test Results:
The tests showed that her blood count was completely normal, without any anemia, and that she didn't have either viral or autoimmune hepatitis or celiac disease. All of the other tests were unremarkable, except for the liver function tests, which still showed the same elevated enzymes. Dr. Italia referred the girl to Dr. Elizabeth Rand, a doctor at the Children's Hospital in Philadelphia who specializes in pediatric liver disease.
Meeting With the Specialist:
When the mother and child met with Dr. Rand, the doctor was struck by how healthy the child appeared. She did not look like someone with chronic liver disease. Was she able to keep up with her friends? asked Dr. Rand. "No problem," the girl answered promptly. But her father added that she wasn't that active. "Some kids play soccer; some play music," he said, noting that his daughter played the violin. There were no new symptoms to report, the parents told Dr. Rand — just the ongoing hair loss and the elevated liver enzymes. On exam, the doctor could find no evidence of liver disease.
The Specialist's List of Possible Diagnoses:
Wilson's disease: An inherited metabolic disease that causes an inability to get rid of excess dietary copper, which builds up in the body and causes damage primarily to the liver and brain. Order a test for ceruloplasmin, the enzyme missing in those with Wilson's disease.
Alpha-1-antitrypsin deficiency: A condition in which the body does not make enough of a protein that protects the lungs and liver from damage. Order a test to measure the protein.
Muscle disease: Damaged muscle can also produce the elevated enzymes seen in this patient. Order a test of C.P.K., another enzyme that rises when muscle is injured. If the C.P.K. was also elevated, it would suggest that the problem was not a damaged liver but damaged muscle.
The Results:
The C.P.K. was elevated — four times the upper limit of normal. The tests for Wilson's disease and alpha-1-antitrypsin deficiency were both negative.
The Challenge: Can you figure out what's going on with this 10-year-old girl with abnormal liver enzymes, abnormal muscle enzymes and hair loss?
http://well.blogs.nytimes.com/2011/03/23/think-like-a-doctor-the-contest/
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