Wilson's Disease Presenting With Pancytopenia

Can Acıpayam, Ali Altunay, Nilüfer İlhan, Nesrin Atçı
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Wilson’s disease is an autosomal recessive disorder of copper metabolism characterized by excessive amount of copper in liver, brain, eye and other body tissues. Diagnosis is based on the presence of Kayser-Fleischer rings, typical neurological symptoms, and/or a low serum ceruloplasmin concentration. The main clinical symptoms are usually due to hepatic and/or neurologic involvement. Pancytopenia is a rare initial symptom of Wilson Disease. An 11-year-old female presented with pancytopenia. This raised suspicion of Wilson’s disease, which was confirmed by Kayser-Fleischer rings, a low ceruloplasmin level and raised 24- hour urine copper level. Thus a pancytopenia may be the initial manifestation of Wilson’s disease in some patients of Wilson’s disease.

Key Words: Wilson’s disease, pancytopenia, Kayser-Fleischer rings

Anahtar kelimeler

Wilson hastalığı, pansitopeni, KayserFleischer halkası

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DOI: http://dx.doi.org/10.17944/mkutfd.47284


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