Diagnostic Dilemma

Rickets with low serum ceruloplasmin

A 9 years 8 months old girl born of non consanguineous marriage presented with knock knees and difficultly in walking. She was diagnosed to have rickets in view of low 25-hydroxy Vitamin D and 1, 25 dihydroxy Vitamin D. However she also had metabolic acidosis and USG abdomen showed hepatomegaly with coarse echotexture and normal sized kidneys. Her urine aminoacidogram and plasma aminoacidogram was normal. Serum ceruloplasmin was low and 24 hours urine copper was 177 µg, 24 hours and post Penicillamine was also 195 µg, 24 hours. There was no KF ring and liver enzymes were normal.

Should this child undergo a liver biopsy to measure dry weight of copper_?
Expert Opinion :
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.
Answer Discussion :
Thomas Lundqvist
Wilson, no.
8 years ago
indu mathi
yes,it is gold standard
8 years ago

View More Comments

Disclaimer: The information given by www.pediatriconcall.com is provided by medical and paramedical & Health providers voluntarily for display & is meant only for informational purpose. The site does not guarantee the accuracy or authenticity of the information. Use of any information is solely at the user's own risk. The appearance of advertisement or product information in the various section in the website does not constitute an endorsement or approval by Pediatric Oncall of the quality or value of the said product or of claims made by its manufacturer.
0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0