Publication:

Varied and atypical presentation of Wilson disease in a family: report of 3 cases in siblings

Study reports a series of three cases of atypical presentation of Wilson disease from a family. First sibling presented with isolated neurological manifestation without hepatic involvement and responded well with low dose penicillamine and zinc. Second sibling had history of recurrent long bone fractures along with hepatitis who also responded well with zinc therapy. Third sibling who was presymptomatic turns up into symptomatic state even after appropriate zinc prophylaxis.