Hepato-lenticular degeneration

M6. Matthews, W. B., The absorption and excretion of radiocopper in hepato lenticular degeneration (Wilson s disease). J. Neurol. Neurosurg. Psychiat. 17, 242-246 (1954). 

Hepato-lenticular degeneration occurs predominantly in young people and was first described in 1912 by Kinnier Wilson. It is inherited as an autosomal recessive trait and the basic underlying abnormality is a deficiency... 

Wilson s disease (WD hepato-lenticular degeneration), is a rare, often familial, progressive disease of the central nervous system (CNS) and the liver, due to disordered copper metabolism. WD is an autosomal recessive inherited disease which occurs worldwide and has a remarkably uniform prevalence of about 30 per one million... 

Rare complications of liver cirrhosis are chronic persistent hepatic encephalopathy and hepatic myelopathy. Both occur in less than 1% of the patients, and both are accompanied by extensive porto-systemic shunts. Chronic persistent hepatic encephalopathy is also known as acquired hepato-lenticular degeneration (Victor, Adams and Cole, 1965). In contrast to the nsnal cirrhotic patient with HE, these patients show obvions neuronal alterations a patchy, spongy degeneration most consistently observed in the deep layers of the cerebral cortex and subcortical white matter, particularly in the parieto-occipital cortex, basal ganglia and cerebellum. 

Richmond, J., Rosenoer, V. M., Tompsett, S. L., Draper, I., and Simpson, J. A., 1964, Hepato-lenticular degeneration (Wilson s disease) treated by penicillamine. Brain 87 619. 

---