[Phenocopy of hepatocerebral dystrophy (Wilson-Konovalov disease)].
For differentiating between hepatocerebral dystrophy (HCD) and its phenotypic analogues 70 patients with diseases of the subcortical ganglia and the cerebellum were examined. Some signs pathognostic of HCD (a transient drop of the ceruloplasmin level in the serum, a slight rise of the copper content in the hepatic tissue, subclinical signs of a hepatic pathology) may be encountered, though rarely, also in diseases of the subcortical ganglia and the cerebellum of other etiology. In obscure cases the diagnosis can be made clear only after carrying out a full complex of examinations, such as, revealing Kaiser-Fleischer rings, carrying out functional, radioisotopic and morphological examinations (by puncture biopsy) of the liver and determining the copper level in the latter. In patients with affections of the subcortical ganglia and the cerebellum, the liver is involved rather infrequently; the disturbances are of a subclinical character and can be classed with manifestation of drug disease, the extremes of which are fatty dystrophy and more frequently nonspecific changes.
D001927:Brain Diseases / Q000175:diagnosis; D002570:Ceruloplasmin / Q000378:metabolism; D003300:Copper / Q000378:metabolism; D003937:Diagnosis, Differential; D006527:Hepatolenticular Degeneration / Q000175:diagnosis* / Q000378:metabolism; D006801:Humans; D008099:Liver / Q000503:physiopathology; D008107:Liver Diseases / Q000175:diagnosis; D010641:Phenotype
D003300:Copper; D002570:Ceruloplasmin
O fenokopirovanii gepatotserebral'noĭ distrofii (bolezni Vil'sona-Konovalova).