Wilson's Disease Presenting With Pancytopenia

Öz

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’s disease, pancytopenia, KayserFleischer rings

Pansitopeni ile Başvuran Bir Wilson Hastalığı Olgusu

Öz

Wilson hastalığı karaciğer, beyin, göz ve diğer vücut dokularında aşırı miktarda bakır birikimi ile karakterize bakır metabolizmasının otozomal resesif geçişli bir hastalığıdır. Tanı, Kayser-Fleischer halkası, tipik nörolojik semptomlar ve/veya düşük serum seruloplazmin konsantrasyonu varlığına dayanmaktadır. Başlıca klinik belirtiler; karaciğer ve/veya nörolojik tutulum ile ilişkilidir. Pansitopeni, Wilson Hastalığının nadir bir başlangıç belirtisidir. Vakamız, pansitopeni ile prezente olmuş 11 yaş kız hastadır. Wilson hastalığından şüphe duyulan bu hastamızda, KayserFleischer halkaları, düşük seruloplazmin düzeyi ve yüksek 24 saatlik idrar bakır düzeyi varlığı ile tanı kesinleşmiştir. Bizim vakamızda olduğu gibi pansitopeni wilson hastalarında hastalığın ilk belirtisi olabilmektedir.

Anahtar Kelimeler

• Wilson hastalığı, pansitopeni, KayserFleischer halkası

Kaynakça

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