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A Study of Clinical Findings and Neuroimaging Cerebral MRI and CT Scan Aspects in Wilson Disease

Journal: Iranian Journal of Radiology
ISSN 1735-1065

Volume: 5;
Issue: S1;
Start page: 28;
Date: 2008;
Original page

Background/Objective: Wilson disease or heptolen-ticular degeneration is a genetic disorder with an autosomal recessive pattern of inheritance. It is due to an error of copper metabolism. The major presenta-tions are changes in liver, central nervous system, eyes and occasionally other organs. Early diagnosis is very important, because of its known treatment; in addition, late diagnosis is associated with irreversible changes. Our purpose was study of clinical presenta-tions and neuroimaging findings of wilson disease."nPatients and Methods: This was a descriptive study in the neurology department and MRI center of Ghaem hospital since autumn 2000 to winter 2004. This study included patients with primary presentation of neurologic and psychiatric symptoms of who were diagnosed by case finding in family. "nResults: There were 23 cases and 15 of them were men. Chief complaints were movement disorders, psychiatric disorders, speech disorders, and slowing of movement in order. Seizure, amenorrhea and eso-phageal varicose had high prevalence among our cas-es. Brain MRI disorders were seen in 95.3% of cases."nConclusion: The incidence of seizure and amenorrhea among our cases were more than previous studies. Because of high incidence of esophageal varicose in patients with primary symptoms of nervous system, we recommend that esophagoscopy for all patients should be done. This study showed no relationship between severity of symptoms and brain MRI disor-ders. MRI disorders may be seen in patients in pre-symptomatic stage. According to this, we recommend that brain MRI can be used as an Ancillary diagnostic test.
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