[Association of Wilson's disease with non wilsonian extrapyramidal syndrome in the same family].
Movement disorders, mostly dystonia, sometimes occur in heterozygotes for Wilson's disease (WD). A patient with metabolic abnormalities suggestive of heterozygote for WD and dystonia is reported. His niece showed the typical neurological and metabolic abnormalities of WD. This rare coincidence and the etiopathogenic mechanisms involved are discussed.
Barbosa
E R
ER
Divisão de Clinica Neurológica do Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, Brasil.
Kostow
U P
UP
Hirsch
R
R
Cançado
E R
ER
Scaff
M
M
Canelas
H M
HM
D000293:Adolescent; D001480:Basal Ganglia Diseases / Q000150:complications / Q000235:genetics*; D003300:Copper / Q000378:metabolism; D005190:Family; D005260:Female; D006527:Hepatolenticular Degeneration / Q000150:complications / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008099:Liver / Q000473:pathology; D008297:Male; D008875:Middle Aged
D003300:Copper
Associação de doença de Wilson e síndrome extrapiramidal não wilsoniana na mesma família.