Question Title: Wilson's Disease

This week I saw a very nice 10 year old Ethiopian boy who was previously bright and normal and did very well in school. There is no history of neurologic disease in the family. But for the last year or so he has had progressive: change in handwriting, jumbled speech, incordination of the extremities, and emotional lability. His school performance has declined significantly.

On exam he has a slight intention tremor, no resting tremor. He has decreased facial expression, bradykinesia, rigidity of the extremities, slight rigidity of the abdomen, and unsteady gait. His abdomen is normal, with no palpable liver or signs of liver disease.

Because I was concerned about the possibility of Wilson's Disease, I sent him to an American-trained optometrist here, who confirmed that he does have bilateral Kayser-Fleischer rings. His liver function tests (alk phos, total bili, SGOT, SGPT, LDH, and GGT) are all normal. It is impossible to test for copper or ceruloplasmin here. CAT scan and MRI are also unavailable.

My question: Could he have Wilson's Disease with an apparently normal liver? Do you think he would benefit from penicillamine? Zinc? Any other thoughts or possibilities?

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It is not unprecedented to have neurologic symptoms without liver dysfunction, though in general one would expect liver accumulation prior to the development of neurologic symptoms.

If you are confident about the finding of K-F rings, and if this child is symptomatic (mental function and movement disorder), then it really seems imperative to treat. Of course, here we are accustomed to having a greater degree of certainty with the appropriate blood/urine tests prior to starting a potentially toxic medication.

Penicillamine should be the first drug, and it should be continued indefinitely unless intolerable side effects occur. Be on the lookout for the lupus-like syndrome, and aberrations in the CBC. Be sure the child is on a low copper diet.

If he is unable to tolerate penicillamine, then convert to zinc. The advantage of penicillamine is that it actively removes copper, whereas zinc only prevents dietary copper from accumulating. Once the stored copper load is reduced, zinc is good as long as the no/low copper diet is followed.

I hope this helps. CCF MD mdf.