MEHMET UFUK ALUÇLU

İlk bulgusu ekstrapiramidal semptom olan Wilson hastalığı: Olgu sunumu

Wilson hastalığı, bakır metabolizmasındaki bozukluğa bağlı olarak karaciğer ve beyinde dejeneratif değişikliklere yol açan, otozomal resesif geçiş gösteren nadir görülen bir hastalıktır. Kolunda hareket kısıtlılığı ile başvuran hastada yapılan tetkikler sonucunda Wilson Hastalığı tanısı konularak medikal tedavi uygulandı. Wilson Hastalığı klinik, laboratuvar ve görüntüleme bulguları literatür ışığında gözden geçirildi.

Anahtar Kelimeler:

Hepatolentiküler dejenerasyon, Ergen, Kadın, Tedavi sonucu, Kas sertliği, Manyetik rezonans görüntüleme

Wilson’s disease with extrapyramidal symptom as the first finding: A case

Wilson’s disease is rarely seen an autosomal recessive disorder which leads to degenerations in liver and brain due to disorder in copper metabolism. It was determined for a patient with limited arm movement after physical examination, and medical treatment was administrated. Clinical, laboratories and radiology findings of the patients were compared in detail with the current literary.

Keywords:

Hepatolenticular Degeneration, Adolescent, Female, Treatment Outcome, Muscle Rigidity, Magnetic Resonance Imaging,

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