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Table of Contents    
Year : 2018  |  Volume : 66  |  Issue : 3  |  Page : 876-878

Cortical hyperintensities: A rare magnetic resonance imaging finding in Wilson's disease

Department of Neurology, King George's Medical University, Lucknow, Uttar Pradesh, India

Date of Web Publication15-May-2018

Correspondence Address:
Dr. Rajesh Verma
Department of Neurology, King George's Medical University, Lucknow - 226 003, Uttar Pradesh
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0028-3886.232325

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How to cite this article:
Verma R, Sarkar S, More A. Cortical hyperintensities: A rare magnetic resonance imaging finding in Wilson's disease. Neurol India 2018;66:876-8

How to cite this URL:
Verma R, Sarkar S, More A. Cortical hyperintensities: A rare magnetic resonance imaging finding in Wilson's disease. Neurol India [serial online] 2018 [cited 2020 Jul 8];66:876-8. Available from:

Wilson's disease is a rare, autosomal recessive disorder characterized by abnormal copper metabolism. Copper accumulation predominantly occurs in the basal ganglia and brainstem. Here, we present the case of a 14-year old boy with severe generalized dystonia. Neuroimaging of the patient revealed cortical hyperintensities, which have rarely been reported in the literature. Clinicians and radiologists should be aware of atypical neuroimaging findings in this disease to avoid delay in diagnosis and treatment.

A 14-year old male patient was admitted with complaints of severe generalized dystonia for the last 6 months. Born out of non-consanguineous marriage, he had a normal birth and development history. Six months back, he complained of abnormal posturing of his lower limbs which caused difficulty in walking and even resulted in a few falls. This was followed 2 months later by abnormal posturing of his hand that led to difficulty in holding a pen for writing. These problems progressed relentlessly so that he developed severe dystonic posturing of the entire body and was bedridden for the last 2 months. During this time, he also complained of dysarthria and drooling of saliva from his mouth. He complained of severe painful spasms in his limbs. He also showed mood changes for the last 1 month.

On examination, he was conscious and cooperative. He had a vacuous smile on his face. Kayser -Fleischer (KF) rings were visible to the naked eye [Figure 1]. There was drooling of saliva from mouth and his speech was dysarthric. Motor examination revealed severe generalized dystonia involving all four limbs, trunk, and neck. No pyramidal signs were evident. Planter reflexes were flexor.
Figure 1: KF ring visible on naked eye examination

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His complete blood count revealed anemia. Liver function tests were within normal limits. Serum ceruloplasmin was found to be low. Urinary copper excretion was found to be high. Magnetic resonance imaging (MRI) of the brain showed T2 signal hyperintensities in bilateral basal ganglia and thalamus, midbrain, and pons [Figure 2]. In addition, there was presence of cortical hyperintensities in the frontal and parietal lobes that showed restriction on diffusion-weighted imaging (DWI) [Figure 3].
Figure 2: Symmetrical hyperintensities are noted in bilateral putamen, thalami and head of both caudate nuclei on T2-weighted and FLAIR images

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Figure 3: On DWI, hyperintense signals are noted in cortical gray matter, which appeared iso- to hypointense on apparent diffusion coefficient (ADC) maps

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The diagnosis of Wilson's disease was entertained in view of the clinical assessment and laboratory findings. The patient was administered penicillamine and zinc therapy with dietary modification. Drugs to treat dystonia were also added. After 3 months of follow-up, the patient recovered partially. His repeat laboratory findings revealed normalization of values.

Wilson's disease is a rare autosomal recessive disorder characterized by abnormal copper metabolism caused by mutations in the gene encoding P type ATPase (ATP 7B). The clinical manifestations of this disease are diverse, resulting from hepatic, neurologic, ophthalmic, psychiatric, and other system involvement.[1],[2] Serum ceruloplasmin levels are low and urinary copper excretion is increased. However estimation of hepatic copper is the most definitive method of diagnosis.[3],[4]

On MRI, hyperintensities are noted in the putamen, caudate nucleus, globus pallidus, pons, and cerebellum. High signal intensities on T2 weighted images may occur due to edema, gliosis, and cystic degeneration.[5],[6] Restricted diffusion may be noted early in the disease on diffusion weighted imaging (DWI), and is in all likelihood, caused by cytotoxic edema or inflammation due to excessive copper levels.[5],[6] Hypointensities on long TR sequences have also been observed and are postulated to occur due to the paramagnetic effect of copper deposition [Table 1].[7],[9],[10]
Table 1: Review of literature related to cortical imaging findings in Wilson disease

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In addition to the better known basal ganglia lesions, extensive gray matter and even white matter lesions may occur, though much less frequently.[7] In a large series from India that studied MRI changes in 100 patients of Wilson disease, involvement of the cortex was noted in 9% of the patients.[8]

In a case report, a 14-year old boy presented with dysarthria, dysphagia, walking difficulty, and tremors. T2 hyperintensities were noted in cortical gray matter and subcortical white matter of the frontal, parietal, and temporal lobes.[9] In our patient who presented with severe generalized dystonia, in addition to the involvement of deep gray matter, cortical T2 hyperintensities were noted that showed restriction on DWI. Such findings have rarely been reported in literature and could possibly be the result of cytotoxic edema or copper-related inflammation. Physicians should be aware of this atypical imaging finding in Wilson's disease.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.

  References Top

King AD, Walshe JM, Kendall BE, Chinn RJ, Paley MN, Wilkinson ID, et al. Cranial MR imaging in Wilson's disease. AJR Am J Roentgenol 1996;167:1597-84.  Back to cited text no. 1
Walshe JM. Wilson's disease. In: Vinken PJ, Bruyn GW, Klawans HL, editors. Handbook of Clinical Neurology. Vol. 49. Amsterdam: Elsevier Science Publishers; 1986. pp 223-38.  Back to cited text no. 2
Starosta-Rubinstein S, Young AB, Kluin K, Hill G, Aisen AM, Gabrielsen T, et al. Clinical assessment of 31 patients with Wilson's disease. Correlations with structural changes on magnetic resonance imaging. Arch Neurol 1987;44:365-70.  Back to cited text no. 3
Yuh WT, Flickinger FW. Unusual MR findings in CNS Wilson disease. AJR Am J Roentgenol 1988;151:834.  Back to cited text no. 4
van Wassenaer-van Hall HN, van den Heuvel AG, Jansen GH, Hoogenraad TU, Mali WPTM. Cranial MR in Wilson Disease: Abnormal white matter in extra pyramidal and pyramidal tract. AJNR 1995;16:2021-7.  Back to cited text no. 5
van Wassenaer-van Hall HN, van den Heuvel AG, Algra A, Hoogenraad TU, Mali WPTM. Wilson Disease: Findings at MR imaging and CT of the brain with clinical correlation. Radiology 1996;198:531-6.  Back to cited text no. 6
Senner RN. Wilson's disease: MRI demonstration of cavitations in basal ganglia and thalami. Pediatr Radiol 1993;23:157.  Back to cited text no. 7
Sinha S, Taly AB, Ravishankar S, Prashanth LK, Venugopal KS, Arunodaya GR, et al. Wilson's disease: Cranial MRI observations and clinical correlation. Neuroradiol 2006;48:613-21.  Back to cited text no. 8
Grover SB, Gupta P, Kumar A, Mahajan H. Extensive gray and white matter abnormalities in Wilson's disease: A case report. Indian J Radiol Imaging 2006;16:91-4.  Back to cited text no. 9
  [Full text]  
Ranjan A, Kalita S, Kumar S, Bhoi SK, Misra UK. A study of MRI changes in Wilson disease and its correlation with clinical features and outcome. Clin Neurol Neurosurg 2015;138:31-6.  Back to cited text no. 10


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