Online ISSN 2313-1519
Print    ISSN 1812-2892
Abstract - Difficulties in the diagnosis of Konovalova-Wilson disease
Sahipzhamal Idrissova, Galiya Shaimardanova, Saltanat Abdraimova, Karlygash Kuzembayeva, Assem Tuleyeva

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.

Volume 4, Number 34 (2014)