Difficulties in the diagnosis of Konovalova-Wilson disease

Трудности диагностики болезни Коновалова-Вильсона
Sahipzhamal Idrissova 1, Galiya Shaimardanova 1, Saltanat Abdraimova 1, Karlygash Kuzembayeva 1, Assem Tuleyeva 1
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1 National Scientific Medical Research Center, Astana, Kazakhstan
J CLIN MED KAZ, Volume 4, Issue 34, pp. 70-74.
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ABSTRACT

This article is a clinical report about supervision of 2 patients with Konovalov-Wilson’s disease, Hepatolenticular degeneration. The disease started when they were young; in one of the cases patient was diagnosed incorrectly as Myasthenia and was observed for quite a long time. In both cases there was no evidence of positive family history. Both patients have a diverse severe damage of the liver. In one of the cases cirrhosis led to severe coagulopathy with marked decrease in coagulation factors, platelets and increased bleeding time of the hemostasis system with decreasing the level of platelets, lengthening of indicators of coagulogram was diagnosed. Both patients have a severe damage of nervous system with combination of extrapyramidal and cerebellar signs. Cognitive function was affected as well creating diverse presentation of symptoms.
Keywords: Hepatolenticular degeneration, extrapyramidal syndrome, Wilson's disease, copper, ceruloplasmin

CITATION

Idrissova S, Shaimardanova G, Abdraimova S, Kuzembayeva K, Tuleyeva A. Difficulties in the diagnosis of Konovalova-Wilson disease. Journal of Clinical Medicine of Kazakhstan. 2014;4(34):70-4.

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