Konuşma Bozukluğu ile Başvuran Bir Wilson Hastalığı Olgusu

Yıl 2009, Cilt: 7 Sayı: 2, 41 - 44, 01.09.2009

Sebahattin Vurucu Oktay Sarı Murat Kocaoğlu Bülent Ünay Rıdvan Akın

Öz

Wilson hastalığı safra yoluyla vücuttan atılımının yetersizliği sonucunda karaciğer, beyin, böbrek, kornea ve plasenta gibi organ ve dokularda bakır birikimiyle karakterize, otozomal resesif geçiflli, dejeneratif bir hastalıktır. Klinik bulgular tutulan organa göre değifliklik göstermektedir. Tanı serum seruloplazmin düzeyinde düflüklük, idrar bakır atılımında artıfl ve gözde Kaiser-Fleischer halkasının görülmesi ile konulur. Konuflmada bozulma ve ağızdan salya akması flikayetleriyle baflvuran, her iki gözdeki Kaiser-Fleischer halkası, beyin manyetik rezonans görüntülemede beyaz cevher, pons, bilateral putamen ve kaudat nükleuslardaki lezyon alanları ve idrarda artmıfl bakır düzeyi nedeniyle Wilson hastalığı tanısı konulan 12 yaflında bir kız hasta tartıflılmıfltır. Konuflmada bozulmaflikayeti ile baflvuran olguların Wilson hastalığı açısından dikkatli bir flekilde değerlendirilmesi, tanıda gecikme ve gereksiz laboratuvar incelemelerini önleyebilir

Anahtar Kelimeler

Wilson hastalığı, konuflma bozukluğu, çocuk

A Case of Wilson Disease Presenting with Dysarthria

Öz

Wilson’s disease is an inherited autosomal recessive, degenerative disordercharacterized by copper accumulation in the organs and tissues such as liver,brain, kidney, cornea, and placenta due to deficiency of copper excretion fromthe body by bile. Clinical findings varies according to involved organs. The diagnosis is based on increased urinary copper concentrations, reduced levelsof serum ceruloplasmin, and determination of Kaiser-Fleischer rings. A 12-yearold female who was diagnosed as Wilson disease with findings including dysarthria, drooling, Kaiser-Fleischer rings, lesion areas in the cerebral whitematter, bilateral putamen, nucleus caudatus, and pons on brain magnetic resonance imaging and increased urinary copper concentration is presented anddiscussed. Particularly, evaluation of the cases presented with dysarthria forWilson disease may prevent delaying in diagnosis and unnecessary laboratorystudies

Anahtar Kelimeler

Wilson’s disease, dysarthria, child

Kaynakça

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