Wilson's disease; hepatolenticular degeneration.

The inclusion of a rare neurological disease in an issue of this journal devoted to disorders of the liver would seem to warrant some explanation for although cirrhosis of the liver is an integral part of the syndrome of Wilson's disease, it accounts for an insignificant proportion of all patients suffering from hepatic cirrhosis. However, although quantitatively unimportant, its significance reaches beyond the rigid confines of a medical curiosity, for a study of this disease has posed problems in genetics, in trace metal metabolism, in protein metabolism and in renal tubular transport, to mention only a few of those aspects which have been investigated during the past decade with particular vigour. In this article some of these newer aspects will be discussed against the backdrop of knowledge which has accumulated steadily during the past four to five years. But enthusiasm for the newer knowledge should not automatically repudiate the old, and although our understanding of the disease has increased enormously there seems little likelihood that the clinical description of the disease by Kinnier Wilson in 190o will be bettered.1 Although Kinnier Wilson recognized and de-lineated the syndrome called hepatolenticular de-generation or, more commonly, Wilson's disease, it is of interest that Frerich described a case of cirrhosis in I886 which seems to have been a case of Wilson's disease.2 In his classic treatise on liver disease, Frerich described how Carl Zeppner, a peasant's son, suffered from severe liver disease associated with violent tremors and convulsions and died at the age of io. An autopsy revealed hepatic cirrhosis. The age of the patient, his sex and the characteristic symptoms make the diagnosis of Wilson's disease, if not certain, at least highly probable.