Think Like a Doctor (The Winner) - NYTimes.com

Yesterday, I challenged readers to solve a complicated case of a little girl losing her hair.

More than 1,200 readers weighed in with diagnoses that included a too-tight ponytail, toxins on the girl's violin, autoimmune conditions, eating disorders and even the go-to disease of the doctors on "House," sarcoidosis.

As of late last night, six readers came up with the right diagnosis, although several others came came very close. And the answer is . . .

Final Diagnosis: Pompe disease.

Patients with Pompe (pronounced pom-PAY, like the ancient city) disease have significant trouble breaking down glycogen, the stored form of our main energy source, glucose. Glycogen is most abundant in the liver and in muscle, where it's stored as an emergency form of energy. But in order to be used, the glycogen has to be broken down into glucose via an enzyme.

Patients with Pompe disease, an inherited condition, make defective enzymes or don't have the enzyme at all. Pompe patients become tired easily and have little endurance because they can't get the extra energy from glycogen; they simply run out of gas. More important, the unused and unusable glycogen is left inside muscle and liver cells, and ultimately the build-up of these glycogen fragments destroys the cells.

The consequences of untreated Pompe disease are devastating. Patients quickly become wheelchair bound, and even breathing becomes difficult. (The most severe form of this disease was portrayed in the 2010 Harrison Ford film"Extraordinary Measures." )

A drug that replaces the defective enzyme was approved by the Food and Drug Administration in 2006. Patients who get this medication may be able to slow and sometimes reverse the devastating consequences of this disease.

Readers' responses:

Hundreds of readers weighed in on this case. Some were doctors, but many were not. Some walked us through their thinking; others just laid their proposed diagnosis out for all to see. Only a handful of readers got the right answer.

B. Mull, a physician from Orange County, Calif., was the first to solve the puzzle, submitting his diagnosis at 4:32 a.m. (1:32 a.m. his time), four hours after the case went up. He wrote:

She definitely has a muscle disease. Most likely toxic, autoimmune, or metabolic. There is no obvious toxin however… And what metabolic myopathy has hair loss? I'm putting my money on POMPE DISEASE.

Later that afternoon, a comment came in from Lisa in Minnesota, who proposed that it was "Pompe disease for the muscle issues." Lisa is not a doctor, but says she has worked with people with this disease and recognized the signs.

These two readers, a doctor and a non-doctor, were the first two to figure out the diagnosis. Both will get the prize, a signed copy of my book, "Every Patient Tells a Story."

Four other readers posted answers over the course of the day suggesting Pompe disease, including Sandra from Paulinia, Brazil, Wombat MSIII, LS from NYC, and KH from Houston. Strong work, you guys.

Several more readers deserve honorable mentions for coming very, very close to getting the right answer. All identified the disease as one of the glycogen storage diseases. Pompe is only one member of this family of diseases. Good work for picking the right family, but it wasn't quite specific enough.

I was hugely impressed by the thoughtfulness of comments that were posted. Several made me laugh — I think they were supposed to — and many made me think about how toxic the world we live in can seem. I was amazed by the range of diagnostic suggestions. A few times I even had to look up the proposed diagnosis.

One of the difficulties of this case derived from the fact that the symptom that brought the child to medical attention was less important to making the diagnosis than the results of the blood tests that showed abnormal liver and muscle enzymes.

And while hair loss isn't a key symptom of Pompe disease, the patient tells me it's a very common symptom among the many with Pompe disease that she has come to know since her own diagnosis just over a year ago. Since starting treatment, her hair has not been falling out in her hands the same way she complained about to her mom a lifetime ago.

How the patient's doctors made the diagnosis:

When Dr. Rand, the liver specialist, got the elevated C.P.K. muscle-enzyme test back, she referred the family to Dr. Carsten Bönnemann, a pediatric neurologist now at the National Institutes of Health who specializes in diseases of the muscle.

When Dr. Rand described the case to him, he suggested a test she had never heard of — an ultrasound of the muscles. Normal muscles look dark, nearly black, on an ultrasound. But when the ultrasound wand was put over the patient's thigh muscles, instead of looking black, the muscles looked granular, like the kind of static you see on a TV between channels.

This suggested to Dr. Bönnemann that the muscle might be infiltrated with something else. And the only way to figure out what that something was, he explained to the patient's parents, was to take a biopsy. And indeed, the biopsy suggested that the girl had Pompe disease, which was confirmed by genetic testing.

Back to the patient:

When Dr. Bönnemann broke the news to the girl's parents that that their daughter had Pompe disease and that she inherited it from them, they were devastated. How could they have passed on to their child this disease they'd never even heard of?

But there was more. Because this was a genetic disease, there was a chance that one or both of their other children could have it as well. Testing showed that their 12-year-old son did not have it; their 16-year-old daughter did. When her parents told her, the girl put her head down and cried.

Both girls now get an intravenous infusion of a synthetic version of the enzyme they need every two weeks. The results have been remarkable. Although neither of the girls thought of themselves as weak, they were. The younger daughter can now do three sit-ups; she had never been able to do a single one before she started therapy. The older daughter, now 17, bragged to me that she could pick up a full gallon of milk with one hand — something she couldn't do before she started treatment.

"Every day is kind of a struggle for these girls," the mother told me not long ago. "It's with us every day. Psychologically and practically."

In addition to the medication, the children have to stick to a reduced carbohydrate diet and go to physical therapy a couple of times each week. But, says mom, "They don't let this disease slow them down." Moreover, catching the disease this early has allowed the young women to start treatment and may protect them from some of the worst consequences of the disease.

http://well.blogs.nytimes.com/2011/03/24/think-like-a-doctor-the-winner/?partner=rss&emc=rss

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