Rickets with low serum ceruloplasmin

The urinary copper did not increase by 10 fold after penicillamine. Thus, in this child there is no proper evidence of Wilson’s disease apart from low ceruloplasmin. The child’s ceruloplasmin was checked after a month and was normal. No liver biopsy has been done as yet.

Though molecular diagnosis of Wilson’s disease is available, due to the number of individual mutations, it is not practical for most laboratories and so clinicians still have to rely on clinical and laboratory criteria. Though 24 hours urine copper greater than 100 µg, 24 hours is suggestive of Wilson’s disease, it can be seen if the patient is receiving any type of copper chelation therapy, if the collection is contaminated by exogenous copper or if the patient has chronic active hepatitis, cholestatic cirrhosis or nephrotic syndrome. Usually post Penicillamine {500 mg given orally before and repeated 12 hours into collection} values are usually 10 fold of pre-penicillamine.