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In Kinnier Wilson’s textbook,1 he writes about the disease that bears his name: “My monograph of 1912 described a disease unknown to the medical profession at that time”. While summarising the essential features he emphasises the familial but not congenital nature of the illness, which lasted a few months in acute cases, many years in chronic cases.
Wilson’s paper,2 the basis of his MD thesis, “ . . . contained references to six old and previously obscure cases (none later than 1890), and recorded four of my own in three of which autopsy revealed typical lenticular lesions as well as cirrhosis of the liver.”
Wilson acknowledged his indebtedness to Gowers who he said described, “the first two recorded cases of the disease . . ..” Gowers, in 1888,3 had reported:
“A ten year old boy with a brother and three other relations having suffered maladies resembling chorea. The boy suffered from tonic spasm which was continuous . . . affecting the face producing a constant peculiar smile. The tongue was pressed back against the palate in such a manner as to impede swallowing and prevent speech. The arms were extended, pronated and rotated inwards, . . . fingers extended and slowly moved in the irregular way characteristic of athetosis. The legs were extended . . . feet overextended in talipes equino-varus. He died within seven months. Autopsy showed neither naked eye nor microscopic abnormality in the central nervous system.”
Eighteen years later Gowers provided4the full histories of the 10 year old Sydney M and his 15 year old sister Charlotte, noting:
“The liver was “firm, hard and lobular and was evidently sclerosed.” His sister developed a similar illness. “ . . .lip hanging down and was easily excited . . .as well as having movements similar to those of her brother.”
Wilson acknowledged other suspected cases. Ormerod described bilateral putaminal softenings in a “Case of Cirrhosis of the liver in a boy with obscure and fatal nervous symptoms”; Homén reported a “Peculiar Disease occurring in three members of a family in the form of a progressive dementia probably Lues hereditaria tarda” (sic). However, Wilson strenuously discounted those instances of ′pseudosclerosis’ described by Westphal and Strumpell that were “non specific, with no evidence of liver disease, and heterogeneous”: a view confirmed later by Greenfield.
A full description is to be found in his paper and his textbook1 which includes an account of the corneal ring first reported by Kayser in a case diagnosed as multiple sclerosis, then by Fleischer who realised their diagnostic significance. He continues:
“Initial jaundice is fairly often specified in case-reports, together with ascites perhaps, yet customary symptoms and signs of cirrhosis very seldom occur indeed.”
He mentions terminal haematemesis in one case, and notes:
“more usual is swelling of the spleen, enough to render it palpable . . . The clinical features of an advancing case is highly characteristic. With mouth often held open, and a stereotyped smile, or, if not laughing or smiling, a vacant or fatuous look, the patient sits and leans to one or the other side, or back, all four limbs agitated by tremor, mostly quick and rather fine; fingers and hands are contracted in flexion, trunk is held stiffly, and willed movements are slowly performed, to the accompaniment of wilder tremulousness. Though saliva may drip from the parted lips and facies almost silly, the eyes are alert and intelligent. Youth may impart a curiously complacent aspect to the features. Fluidity and fixity of symptoms are both evident to the observer; tremors wax and wane, leave one part for another, or alter their type in the same segment according as it is being used or not, but behind the changing phenomena is a general postural stiffness and contraction-attitude, while the physiognomy, too, is apt to become set.”
The salient features he summarises as follows:
“A unique feature is the underlying combination of cerebral and visceral lesions, the former consisting (chiefly) in bilateral softening or degeneration of lenticular nucleus (putamen and caudate) and to a less degree of globus pallidus, the latter in hepatic cirrhosis. Without this liver disease, seldom if ever disclosed during life (unless by one or other functional test) no case can be admitted to this category. The clinical syndrome comprises involuntary movements, mostly tremulous but sometimes athetoid or spasmodic, rigidity, dysarthria, dysphagia, emotional overaction (spastic smiling, etc.) and at times mental disorder . . .; in a pure case pyramidal symptoms are lacking. It forms, in brief, a syndrome of extrapyramidal disease.”
His ideas about its aetiology show his frustrations with the limitations of available knowledge. He refers to the classic Eck’s fistula as establishing a link between liver and brain; and he observes:
“that the liver first becomes affected, that the lenticular lesions follow, and that this hepatitis has something to do with the continuance of toxic effects.”1 He considered toxic metallic poisons, but “the evidence is scant.”
Wilson died of cancer in 1939 shortly before the publication of his magnum opus, and before the discoveries of the defect of caeruloplasmin by Scheinberg in 1952 with consequent copper overloading of the liver, cornea, and brain. His enquiring mind would have been fascinated by knowledge of the autosomal recessive gene linked to markers on chromosome 13. He would indeed have been gratified by the efficacy of penicillamine shown by Walshe and Yealland in 1956 and later by the effects of trientine and zinc.5
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