Wilson Hastalarında İlk Başvuruda Nörolojik Bulgular

Amaç: Wilson Hastalığı (WH), bakır transportunda bozukluğa bağlı olarak birçok organ ve dokuda bakırın birikmesine sebep olan kalıtsal bir hastalıktır. WH'da ensık nörolojik ve nöropsikiyatrik bulgular görülmektedir. Prognoz genellikle karaciğer tutulumunun şiddetine ve nörolojik tutuluma bağlıdır. Erken tedavi beyin hasarı ve semptomları kontrol edebilir. Tanı zamanı prognoz ile ilişkilidir. Bu çalışmada amacımız kliniğimizde WH nörolojik bulgu sıklığını belirlemek ve klinik tecrübemizi aktarmaktır. Gereç ve Yöntem: 2014-2017 yılları arasında WH tanısı almış olan ve nöroloji polikliniğinde muayene olan hastaların nöroloji polikliniğine başvuru şikayetleri kayıt edildi. Hastaların klinik ve laboratuvar görüntülemeleri kayıt edildi. Bulgular: Çalışmaya 11 kadın, 25 erkek toplam 36 hasta alınmıştır. Bu hastaların nörolojik muayenesinde; 4 hastada sadece tremor, 2 hastada tremor ve distoni, 2 hastada tremor ve kore, 1 hastada tremor ve koreatetoz, 2 hastada epilepsi saptanmıştır. Nöroloji takibi olan 36 WH'nın 11 inde (% 30.5) nörolojik tutulum tespit edilmiştir. Nörolojik semptomu olan hastalarda % 81.8 oranı ile tremor ensık görülen semptomdur. Tremor görülen hastaların % 44.4'ünde tek başına tremor saptanmışken, kalan % 55.6'sında eşlik eden başka bir hareket bozukluğu saptanmıştır. Sonuç: Wilson hastalığında nörolojik komplikasyon sıktır, ensık görülen semptom tremordur.

Neurological Findings in Wilson's Patients at First Examination

Aim: Wilson's disease (WD) is a hereditary disease that causes the accumulation of copper in many organs and tissues due to impaired copper transport. WD is presented with neurological and neuropsychiatric findings. Prognosis is usually dependent on severity of liver involvement and neurological involvement. Early treatment can control brain damage and symptoms. The time of diagnosis is related to prognosis. Our aim in this study is to determine the frequency of WD neurological manifestations in our clinic and to convey our clinical experience. Methods: Patients with diagnosis of WD and complaints were examined in the neurology outpatient clinic between 2014 and 2017. Clinical and radiological images of the patients were reviewed. Results: A total of 36 patients (11 female, 25 male) were included in the study. In the neurological examination of these patients. Only tremor was found in 4 patients, tremor and dystonia in 2 patients, tremor and chorea in 2 patients, tremor and choreatetosis in 1 patient and epilepsy in 2 patients. Neurological involvement was detected in 30.5 % of 36 WD neurological follow-up patients. Tremor is the most common neurologic finding in patient with involvement of central nervous system in WD. Symptom is tremor with 81.8 % of patients with neurological symptoms. Tremor was detected in 44.4 % of patients with WD, while another 55.6 % were accompanied by another movement disorders. Conclusion: Neurological complications are common in Wilson's disease. The most common symptom seen is tremor.

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