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EXTRAPYRAMIDAL SYNDROMES WITH HEREDITARY METABOLIC DISEASE Parkinsonian Syndromes
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Reference is made here to the distinctive extrapyramidal motor disorders described in Chap 4 In the typical parkinsonian syndrome, with features of rigidity, tremor, and bradykinesia, strength remains relatively intact and corticospinal signs are absent, but effectiveness of movement is nonetheless impaired by the patient s disinclination to use the affected parts (hypo- or akinesia), by slowness (bradykinesia), and by rigidity and tremor Other clinical syn-
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THE INHERITED METABOLIC DISEASES OF THE NERVOUS SYSTEM
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tubular changes, Kayser-Fleischer rings, and, in all likelihood, the cerebral damage as discussed below Clinical Features The onset of neurologic symptoms is usually in the second and less often in the third decade, rarely beyond that time Half of patients are symptomatic by age 15, but exceptional cases, including two under our care, had their rst clinical manifestations as late as their mid- fties In all instances the initial event is a deposition of copper in the liver, leading to an acute or chronic hepatopathy and eventually to multilobular cirrhosis and splenomegaly (Scheinberg and Sternlieb) In childhood, the liver disorder often takes the form of attacks of jaundice, unexplained hepatosplenomegaly, or hypersplenism with thrombocytopenia and bleeding Rarely is there clear evidence of cirrhosis alone The hepatic abnormalities may be asymptomatic (except for elevated serum transaminases), in which case the initial clinical presentation is neurologic In some instances, a hemolytic anemia or, less often, renal tubular acidosis may rst draw attention to the disease The rst neurologic manifestations are most often extrapyramidal with a proclivity to affect the oropharyngeal musculature The typical presentations are tremor of a limb or of the head and generalized slowness of movement (ie, a parkinsonian syndrome); or slowness of movement of the tongue, lips, pharynx, larynx, and jaws, resulting in dysarthria, dysphagia, and hoarseness; or there may be slowness of nger movement and occasionally choreic movements or dystonic postures of the limbs Often the mouth is held slightly open in the early stage of the disease Exceptionally, an abnormality of behavior (argumentativeness, impulsiveness, excessive emotionality, depression, delusions) or a gradual impairment of intellectual faculties precedes other neurologic signs by a year or more (see Starosta-Rubinstein et al) As the disease progresses, the classic syndrome evolves: dysphagia and drooling, rigidity and slowness of movements of the limbs; exed limb postures; xity of facial muscles with mouth constantly agape, giving an appearance of grinning or a vacuous smile ; dysarthria or virtual anarthria (bulbar extrapyramidal syndrome); and a tremor in repose that increases when the limbs are outstretched to a coarse, wing-beating movement Slowed saccadic eye movements and limitation of upgaze are also characteristic A notable feature is the tendency for the motor disorders to be concentrated in the bulbar musculature and to spread caudally Thus, the syndrome differs from classic parkinsonism Usually elements of cerebellar ataxia and intention tremor of variable degree are added at some stage of the disease Approximately 6 percent of patients develop seizures (Dening et al) Gradually the disability increases because of increasing rigidity and tremor The patient becomes mute, immobile, extremely rigid, dystonic, and slowed mentally, the latter usually being a late and variable effect With progression of the neurologic disease, the KayserFleischer rings become more evident (Fig 37-7) They take the form of a crescentic rusty-brown discoloration of the deepest layer of the cornea (Descemet s membrane) In the purely hepatic stage of the disease, the rings may not be evident (in 25 percent of cases), but they are invariably present once the neurologic signs become manifest A slit-lamp examination may be necessary for their early detection, particularly in brown-eyed patients, but in the majority of patients with neurologic signs the rings can be visualized with the naked eye or with the aid of an indirect ophthalmoscope focused on the limbus The diagnosis is virtually certain when there is a similar syndrome in a sibling or when an extrapyramidal motor disorder of this type is conjoined with liver disease and the corneal rings Var-
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Figure 37-7 Kayser-Fleischer corneal ring (arrow) in Wilson disease (Reproduced by permission from Lyon et al)
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iants of the above syndrome that the authors have seen are an early choreoathetosis (like Sydenham chorea); prominent dystonic postures; a cerebellar ataxia with minimal rigidity; a syndrome of coarse action or action and intention tremor resembling that of dentatorubral degeneration; an immobile mute state with profound rigidity; and a dementia, character change, or psychosis with relatively few extrapyramidal signs Action myoclonus as a prominent early manifestation has also been described The parkinsonian features do not respond to L-dopa treatment Laboratory Findings In both the typical and variant forms of the disease, the nding of a low serum ceruloplasmin level (less than 20 mg/dL in 80 to 90 percent of patients), low serum copper (3 to 10 mM/L; normal 11 to 24 mM/L), and increased urinary copper excretion (more than 100 mg Cu/24 h) corroborate the diagnosis Because 90 percent of copper is carried by ceruloplasmin and the latter is generally reduced in Wilson disease, serum copper values alone may be misleadingly normal Early in the course of the illness, the most reliable diagnostic ndings are a high copper content in a biopsy of liver tissue (more than 200 mcg Cu/g dry weight) and a failure to incorporate labeled 64Cu into ceruloplasmin The latter test, however, fails to dependably differentiate asymptomatic carriers from affected individuals Measurement of increased cupruresis after the administration of pencillamine has not been shown to be more sensitive than an unenhanced 24-h urine collection for copper Persistent aminoaciduria, re ecting a renal tubular abnormality, is present in most but not all patients Liver function tests are usually abnormal; some patients are jaundiced and other signs of liver failure may appear late in the illness In these patients, the serum ammonia may be elevated and the symptomatology may worsen with increases in dietary protein The cirrhosis is not always evident in a liver biopsy (some regenerative nodules are large, and the biopsy may be taken from one of them) On the other hand, the diagnosis in children may be revealed when a liver biopsy is taken for the evaluation of cirrhosis As mentioned earlier, the large number of mutations that give rise to the disease makes it impractical to use genetic analysis for diagnosis, but once the gene abnormality has been established in a given family, linkage studies may be used to identify other affected sibs It has been established that copper deposition in the liver is the initial disturbance; over time it leads to cirrhosis, so that, as already mentioned, the hepatic stage of the disease precedes neu-
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