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Show '< lImwl of Cli,,; cal N(' I/ ro- 0l'htllll/ moloxy 8( 1 J: 31- 33, 1988. Lid- Opening Apraxia in Wilson's Disease James R Keane, M, D. < 0 1988 Raven Press, Ltd., New York A student was diagnosed as having Wilson's disease only after the severe, intermittent inability to open his eyes led him to seek neurologic evaluation. Although lid- opening apraxia is usually a symptom oj diifuse extrapyramidal disease, it has not previously been reported in Wilson's disease. Key Words: Levator inhibition- Lid akinesia- Lid opening apraxia- Wilson's disease. From the Department of Neurology, LAc/ USC Medical Center, Los Angeles, California, U. S. A Address correspondence and reprint re'luests to Dr. I. R. Keane at 1200 North State Street, Los Angeles, CA 90033, U. S. A 3/ Wilson's disease is a diagnosis that is often obvious in retrospect, but frequently obscure when the patient is first evaluated. It is estimated that three- fourths of afflicted patients are never recognized ( 1); in the remainder, delay in diagnosis is common. The following patient was correctly diagnosed only after an incapacitating inability to keep his eyes open developed. CASE REPORT A 19- year- old Korean student with no family history of neurologic disease was noted to have mild speech difficulty and lethargy following head trauma. Examination in the emergency ward showed mild dysarthria and unsteady gait, as well as slight tremulousness. A computed tomography ( CT) scan demonstrated questionable cerebral atrophy, His difficulties were attributed to the effects of cerebral concussion. Two years later, he was again seen following minor head trauma. His school performance had been deteriorating, and intermittent slurring of speech, arm tremors, and occasional drooling had been observed. A CT scan now showed definite mild cerebral, moderate cerebellar, and severe caudate nuclei atrophy and symmetric low density in the basal ganglia, thalamus, and midbrain ( Fig. 1). Neurologic evaluation was recommended. For several months, he delayed seeking further care until difficulty opening his eyes appeared and rapidly became incapacitating. At admission, 1 month after the onset of lid problems, he showed obvious Kayser- Fleischer corneal rings, slowed mentation, and highly variable signs of a fixed smile, asymmetric arm tremors alternating with choreiform movements, mild dysarthria, and slight gait ataxia. The most obvious of his signs was the frequent inability to open his gently closed eyelids voluntarily. No evidence of orbicularis muscle spasm was present ( Fig. 2), and no amount of frontalis APRAXIA IN WILSON'S DISEASE 33 ~ FIG. 3. Manual elevation of the lids is frequently required. absence of ptosis or blepharospasm. " Apraxia" is a controversial ( 4,5) but useful term for this condition in its vernacular meaning of " I don't understand the mechanism." Lid- opening apraxia is differentiated from intermittent ptosis by its repetitive, abrupt, all- or- nothing character and the sparing of other ocular motor functions, and is differentiated from blepharospasm by the absence of orbicularis contraction. Although cerebral hemisphere strokes produce lid- opening apraxia on rare occasions ( 6), most patients with the disorder have diffuse basal ganglia dysfunction [ parkinsonism, supranuclear palsy, Huntington's chorea, or the Shy- Drager syndrome ( 4,5)]. Our patient is the first with Wilson's disease and lid- opening apraxia to be reported, but in view of his other extrapyramidal signs and symptoms, such a presentation is not overly surprising. Slight ptosis and mild or transient eye movement abnormalities have been seen rarely in Wilson's disease, but the only common eye signs are Kayser- Fleischer rings and sunflower cataracts ( 7,8). As Wilson's disease is perhaps the most misdiagnosed, as well as the most effectively treated, of all the genetic, progessive basal ganglia diseases, its recognition is of vital importance. With treatment, patients can be asymptomatic and have a normal lifespan. Wilson's disease should be considered in every young or middle- aged patient with lid- opening apraxia or other extrapyramidal complaints. REFERENCES 1. Scheinberg lH. Penicillamine in Wilson's disease. L7I1eel 1982; 1: 1469. 2. Scheinberg IH, Sternlieb I. Wilsol/' s Dis" as". Philadelphia: WB Saunders Co, 1984. 3. Starosta- Rubinstein 5, Young AB, Kluin K, et al. Clinical assessment of 31 patients with Wilson's disease; correlations with structural changes on magnetic resonance imaging. Arch N" uYlll 1987;+ 1: 365- 70. - 1. Goldstein JE, Cogan DG. Apraxia of lid opening. Ardl Ol'hI/ lllhllo/ 1965; 73: 155- 9. 5. Lepore LE, Duvoisin RC. " Apraxia" of eyelid opening: an involuntary levator inhibition. NeuYll/ ogy 1985; 35:- 123- 7. 6. DeRenzi E, Gentilini M, Bazolli C. Eyelid movement disorders and motor impersistence in acute hemisphere disease. Neurology 1986; 36: 414- 8. 7. Wiebers DO, Hollenhorst RW, Goldstein NP. The ophthalmologic manifestations of Wilson's disease. MI1l/ l1 Oill PYll( 1977; 52:- 109- 16. . 8. Gadllth N, Liel Y. Transient external ophthalmolplegia in Wilson's disease. Pedialr 0l'htha/ lIIl1/ 1980; 4: 71- 2. J ( fll' Nt"",,- ophthl1ll1lol. Vol. 8. No. 1, 1988 |
