Wilson disease manifested primarily as amenorrhea and accompanying thrombocytopenia

Wilson disease (WD), referred to as hepatolenticular degeneration and occurring primarily as neurological and liver disease, is an inherited disorder that has various clinical presentations [1-3]. The altered gene is localized on the long arm of chromosome 13. Mutations in the Wilson gene are common and include small insertions or deletions. In the cases of unidentified tubular dysfunctions, hemolytic anemias, and urolithiasis, this disease should be kept in mind as the possible etiology. Amenorrhea has been reported in untreated women with WD [1,2,4-8]. Although thrombocytopenia, as a result of hypersplenism and/or as a side effect of D-penicillamin therapy, has been well-documented, the association of idiopathic thrombocytopenia and WD has been published in only one case previously [9]. We present an adolescent patient with secondary amenorrhea, and thrombocytopenia in the absence of hypersplenism as the initial presentation.