Segulómun af höfði við greiningu og mat á Wilsons sjúkdómi : umræða tengd sjúkratilfelli

Kolbrún Benediktsdóttir, Sigurlaug Sveinbjörnsdóttir, Ólafur Grétar Guðmundsson, Grétar Guðmundsson, Friðrik Friðriksson

Research output: Contribution to journalArticlepeer-review

Abstract

The case history of a young patient with Wilson's disease (WD) is presented. The diagnosis of WD was based on increased urinary copper excretion, the presence of Keyser-Fleisher rings, changes observed on MRI of the brain and a remote family history of WD. The patient's parents were distantly related. The MRI showed symmetrically increased signal in the basal ganglia and in the brain stem on protein density and T2 weighted images. Similar changes were later observed in the thalamic nuclei. Signal changes observed on cerebral MRI in WD and their diagnostic and prognostic significance are discussed. The importance of recognising the symptoms of WD is emphasized, as early treatment may prevent death from hepatic failure or permanent damage of the central nervous system.
Greint er frá tæplega tvítugum einstaklingi með Wilsons sjúkdóm. Greining sjúkdómsins var að hluta byggð á segulómun af höfði, sem leiddi í ljós breytingar í djúphnoðum (basal ganglia) og heilastofni. Koparútskilnaður í þvagi sjúklings var mjög aukinn og hringlaga koparútfellingar sáust í hornhimnum (Kayser-Fleischer hringir), en hvort tveggja er einkennandi fyrir Wilsons sjúkdóm. Við eftirgrennslan kom í ljós, að Wilsons sjúkdómur hafði áður komið fram í föðurætt sjúklings og foreldrar voru fjærskyldir.
Original languageIcelandic
JournalLæknablaðið
Publication statusPublished - 1 Dec 1995

Other keywords

  • Segulómun
  • Erfðir
  • Magnetic Resonance Imaging
  • Hepatolenticular Degeneration

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