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Year : 2012  |  Volume : 60  |  Issue : 3  |  Page : 363--364

Acute extrapyramidal syndrome and seizures as heralding manifestation of Wilson disease

Rajesh Verma, Tushar B Patil, Rakesh S Lalla 
 Department of Neurology, Chhatrapati Sahuji Maharaj Medical University, Lucknow, Uttar Pradesh, India

Correspondence Address:
Rajesh Verma
Department of Neurology, Chhatrapati Sahuji Maharaj Medical University, Lucknow, Uttar Pradesh

How to cite this article:
Verma R, Patil TB, Lalla RS. Acute extrapyramidal syndrome and seizures as heralding manifestation of Wilson disease.Neurol India 2012;60:363-364

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Verma R, Patil TB, Lalla RS. Acute extrapyramidal syndrome and seizures as heralding manifestation of Wilson disease. Neurol India [serial online] 2012 [cited 2022 May 28 ];60:363-364
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I, as a principal author, will take full responsibility for the data, the analyses, and interpretation, and the conduct of the research, as I had full access to all of the data and I had the right to publish any and all data, separate and apart from the attitudes of the sponsor.

The clinical presentation of Wilson disease (WD) is highly variable. We report an unusual presentation of Wilson's disease with de novo seizures and acute extrapyramidal features without hepatic manifestations.

A young woman presented with generalized tonic-clonic seizures 15 days before and developed tonic posturing of left upper and lower limb followed by slowness and clumsiness of movement since 3 days. After 2-3 days, she was unable to move her limbs and became bed bound and mute. She also had labile affect and recurrent bouts of crying. She had no history of liver disease and any family history of similar illness. On examination, she was conscious, but irritable, apathetic, with anarthria and intact comprehension for simple verbal commands. Eye examination revealed hypometric saccades and intact oculocephalic reflex. She had dystonia of left upper limb with extensor posturing and severe rigidity in all four limbs and axial rigidity. She was in a complete akinetic state with no movements of the limbs. Deep tendon jerks were exaggerated with extensor plantars. Kayser Fleischer (KF) ring could not be appreciated with torch light.

Her hemogram, liver and renal function tests, and collagen profile were normal. Cerebrospinal fluid (CSF) examination was normal. Enzyme-linked immunosorbent assay (ELISA) for IgM and IgG antibodies in serum and cerebrospinal fluid (CSF) for Japanese encephalitis, herpes simplex, varicella zoster, dengue, measles, and mumps viruses showed negative results. Electroencephalography (EEG) was normal. Magnetic resonance imaging (MRI) showed symmetric T2 and T2 FLAIR hyperintensities involving bilateral caudate, lentiform nuclei and bilateral cerebral peduncles [Figure 1] and [Figure 2]. She was further investigated and ultrasound abdomen revealed altered hepatic echotexture. Slit-lamp examination of eye showed incomplete KF ring over upper half of cornea [Figure 3]. Serum ceruloplasmin was 0.18 g/L (0.2-0.6 g/L), and serum copper level was 8.6 μmol (normal range 11- 21 μmol) with urinary copper excretion of 62.1 μg/L/ day (normal range 20-50 μg/L/ day). The diagnosis of WD Wilson disease was confirmed with the characteristic clinical features, positive KF ring, and characteristic MRI findings, and increased urinary copper. She was treated with d-penicillamine (750 mg/ day), zinc acetate (150 mg/ day), trihexiphenidyl (6 mg/day), and phenytoin (300 mg/day). She did not have seizure recurrence, and at 6 months follow-up she could attend the activities of daily living.{Figure 1}{Figure 2}{Figure 3}

Seizures have been reported to occur in 6.5% patients with WD [1] and the reported frequency of seizures in Indian patients with WD varied between 4.9% and 8.3%. [2],[3] Status epilepticus as a presenting feature of WD is rare. [4],[5] Seizures may occur following institution of chelating agent d-penicillamine therapy. [6] The d-penicillamine inhibits pyridoxine, lowering seizure threshold, or it may be related to the possible "paradoxical reaction" to excess copper mobilization. [6] Copper deposition in brain causes neuronal loss, gliosis, laminar necrosis, spongy degeneration, and cavitation causing focal seizure activity, [6] which probable explains seizures as the initial presentation in our patient.

Acute presentation of WD with complete akinetic rigid syndrome within a few days has not been reported previously. Similar picture has been described in patients with WD having severe hepatic dysfunction or following liver transplantation. [7] Extrapyramidal signs were explained on the basis of acute brain injury because of the massive copper release from liver to the circulation before and during liver transplantation. However, the acute features in our case with normal liver functions are difficult to explain at present on the basis of existing literature and warrant further studies regarding pathophysiology of brain damage in WD.


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