Oktay SARI, Bülent ÜNAY, Sebahattin VURUCU, Rıdvan AKIN, Murat KOCAOĞLU

Konuşma bozukluğu ile başvuran bir wilson hastalığı olgusu

Wilson hastalığı safra yoluyla vücuttan atılımının yetersizliği sonucunda karaciğer, beyin, böbrek, kornea ve plasenta gibi organ ve dokularda bakır birikimiyle karakterize, otozomal resesif geçişli, dejeneratif bir hastalıktır. Klinik bulgular tutulan organa göre değişiklik göstermektedir. Tanı serum seruloplazmin düzeyinde düşüklük, idrar bakır atılımında artış ve gözde Kaiser-Fleischer halkasının görülmesi ile konulur. Konuşmada bozulma ve ağızdan salya akması şikayetleriyle başvuran, her iki gözdeki Kaiser-Fleischer halkası, beyin manyetik rezonans görüntülemede beyaz cevher, pons, bilateral putamen ve kaudat nükleuslardaki lezyon alanları ve idrarda artmış bakır düzeyi nedeniyle Wilson hastalığı tanısı konulan 12 yaşında bir kız hasta tartışılmıştır. Konuşmada bozulma şikayeti ile başvuran olguların Wilson hastalığı açısından dikkatli bir şekilde değerlendirilmesi, tanıda gecikme ve gereksiz laboratuvar incelemelerini önleyebilir.

A case of wilson disease presenting with dysarthria

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

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