ABSTRACT
Introduction: Wilson disease or hepatolenticular degeneration is a genetic disorder with an autosomal recessive pattern of inheritance. It is due to an error of copper metabolism, the major presentations are changes in liver, central nervous system, eyes and occasionally other organs. Eary diagnosis is very important, because of its known treatment, in addition late diagnosis is associated with irreversible changes. Our purpose was study of clinical presentations and neuroimaging findingsof wilson disease
Material and Methods: This was a descriptive study in the neurology department Of Ghaem hospital since autumn 2000 to winter 2004. This study included patients with primary presentation of neurologic and psychiatric symptoms or who were diagnosed by case finding in family
Results: There were 23 cases and 15 of them were men.Chief complaints were: movement disorder, psychiatric disorders,speech disorder and slowing of movement in order. Seizure, amen-orrehea and esophagial varicose had high prevalance among our cases.Brain MRI disorders were seen in 95.3% of cases
Conclusion: The incidence of seizure and amenorrhea among our cases was more than previous studies. Because of high incidence of esophagial varicose in patients with primary symptoms of nervous system we recommend esophagoscopy for all patients should be done. This study showed there was no relationship between severity of symptoms and brain MRI disorders. MRI disorders may be seen in patients in presymptomatic stage. According to this we recommend brain MRI can be used as an ancillary diagnostic test