Expert Opinion :
Diagnosis of Wilson’s disease is challenging. More than 500 distinct mutations have been described in the Wilson gene, from which 380 have a confirmed role in the pathogenesis of the disease2. Thus gene analysis is usually not feasible to make a diagnosis of Wilson’s disease. Usually a combination of various laboratory parameters is necessary to firmly establish the diagnosis. As per European Association for Study of Liver Diseases (EASL) guidelines, Wilson’s disease can be diagnosed normally on the basis of combination of low ceruloplasmin (<1gm/L) and presence of kayser – Fleischer ring (K-F ring). As per the Scoring system developed at the 8th International Meeting on Wilson’s disease, Leipzig 2001; this child has a score of 4. Thus the diagnosis of Wilson's disease is established.