A STUDY OF CLINICAL FINDINGS AND NEUROIMAGING ASPECTS IN WILSON DISEASE

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EATEMADI M.M.; AZARPAZHOOH M.; TAHERI HERAVI M.; REZAEI TALAB F.; AMIRI H.

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Paper Information

Journal: MEDICAL JOURNAL OF MASHHAD UNIVERSITY OF MEDICAL SCIENCES Year:2004 | Volume:47 | Issue:85 Page(s): 247-253

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Title

A STUDY OF CLINICAL FINDINGS AND NEUROIMAGING ASPECTS IN WILSON DISEASE

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Keywords

WILSON DISEASEQ3

BRAIN MRIQ2

BRAIN CT SCANQ4

PSYCHIATRIC DISORDERSQ4

NOUROLOGIC SIGNESQ3

AMENORRHEAQ3

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 OfGhaemhospitalsinceautumn2000to winter2004.This study included patients with primary presentation of neurologic and psychiatric symptoms or who were diagnosed by casefinding 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, AMENORRHEA 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.

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