Wilson’s disease

Wilson’s disease is in the differential diagnosis of parkinsonism that presents early. It has certain characteristic features, including this really weird wind- beating tremor, this odd sort of spastic gait. It has a mix of parkinsonian and long-tract spastic signs. The Kayser-Fleischer rings. There has been a picture of that. You can see it. It’s a gross examination. You don’t have to see it on slit-lamp exactly. There’s a beautiful picture in the New England Journal about two years ago. You know, those images in clinical medicine. Yeah, Kayser-Fleischer ring. It actually looks like oculus senilis almost, but only on one side. Sort of a cloudy haze between the iris and the sclera on one side. Weird looking. It even had little flecks of copper in it. It was like copper deposition in there. There’s a little bit of white cloud to it too, almost like a cataract with a little bit of copper flakes in it. So have a mental image. You see neuronal loss all over the place, not only in the substantia nigra but also in other places. The putamen, the globus pallidus. Most have reduced ceruloplasmin. Now most will also have Kayser-Fleischer rings. By the time they have neurologic involvement, it has been said, 100% of patients will have Kayser-Fleischer rings, so they say. So why not just stop your workup by looking for Kayser-Fleischer rings? Well, because we are imperfect. Because most of the time when I refer to the ophthalmologist they say, “Oh God, another referral from Milwaukee.” Just means he doesn’t have it because he never does. Sort of like getting the echo in embolic work-up.
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The hepatic involvement in Wilson’s disease can be of many different types. As simple as hepatosplenomegaly. It can be a hepatitis, it can be portal hypertension. It can be a chronic active picture. It could be one of those “I don’t know what the cause of that person’s liver demise is, but I don’t know.” And the standard workup is, if the ceruloplasmin is low, it’s a very… if it’s low then you’ve got to chase it. Then you get your 24 hour urine. If that’s high, then you go to liver biopsy. That’s the workup of Wilson’s disease. Why? You want to be sure because you are committing them to a long course of chelation therapy if that is the case, but the reason to go through all this trouble is because it is one of the few reversible movement disorders that we have. Association again, chromosome 13 associated with young-onset parkinsonism, some familiality.

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