Hepatolenticular Degeneration (Wilson's Disease)

A R?eport of five cases, with Commentary WILSON'S disease is a heredo-familial disorder, the essential pathological elements of which consist in a cirrhotic state of the liver comb;ned with degenerative changes in the lenticular nuclei of the brain. The term "hepatolenticular degenera-tion" is therefore aptly precise, but affords little clue to the diversity of the clinical manifestations. A logical survey of the latter should first emphasise the hepatic side of the picture, since all the evidence shows that the liver is affected long before recognisable nervous symptoms appear. During this "prodromal" phase various puzzling clinical states may present-in particular those of portal hypertension with jaundice and ascites, or of splenomegaly with anamia and haemorrhagic phenomena. Not infrequently, death occurs at this early stage and the correct diagnosis only becomes apparent if, and when, another member of the same family shows the fully-developed condition. In patients who survive such early episodes the liver disease is prone to become quiescent, sometimes for years, before nervous troubles finally commence, and outward signs of hepatic damage are certainly inclined to be less prominent in the later phases of the disease. This adds further to the diagnostic difficulties for, once established, the neurological syndrome itself is easily capable of misinterpretation. The classical features, originally described by Wilson (1912), are those of extrapyramidal motor dysfunction. This shows itself in the form of a coarse action-tremor of the extremities together with a plastic muscular rigidity, leading to contracture attitudes and, eventually, to true contractures. Pyramidal function remains intact, and there are no sensory disturbances. Dysarthria and dysphagia are prominent symptoms and there is habitually, some degree of emotional facility with a characteristic sustained grin or "spastic smile." Varying dlegrees of mental deterioration are frequently present. In this type of case, the nervous onset is in early youth or adolescence, and the downward progress rapid, leading to death after a few months or, at most, several years. Gross structural changes in brain tissue are usually found in such cases, including cavitation, or complete destruction, of the lenticular nuclei. In others, the onset is much later in adult life, and the whole process more gradual and prolonged. Here, the outstanding symptom is tremor, without noticeable hypertonus, and without difficulties of deglutition or articulation, at least until the later stages. An immobile, Parkinsonian facies is common, and speech is monotonous. Involvement of pyramidal pathways, with corresponding physical 155