Title: Wilson Disease Presenting with Amenorrhea and Normal Urinary Copper Levels
Authors; Dr Priyanka Bhoir, Dr Annanya Mukherjee
DOI: https://dx.doi.org/10.18535/jmscr/v6i9.68
Abstract
Wilson’s disease (WD) or hepatolenticular degeneration is an inherited autosomal recessive disease characterized by a defect in the biliary copper excretion, leading to copper accumulation in many organs. The absence of family history and relative lack of previous hepatic involvement may lead to the delay in diagnosis. Atypical presentation of Amenorrhea has been reported in untreated women with Wilson’s disease (WD). Clinical phenotypes include hepatic, haemolytic, neurologic and psychiatric diseases. We present an adolescent patient with Secondary Amenorrhea, hemolyticanemia and psychiatric manifestations as the initial presentation.
Keywords: Secondary amenorrhea, psychiatric manifestations, haemolytic anemia, kayser fleischer ring, Wilson disease.
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