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DOI: 10.1590/0004-282X20170003
Frontal lobes white matter abnormalities mimicking cystic leukodystrophy in Wilson’s disease
Anormalidades na substância branca frontal mimetizando leucodistrofia cística na doença de Wilson
An 18-year-old male presented with a three-year history of slurred speech, gait impairment, seizures and progressive neurological deterioration. Brain MRI depicted bilateral hyperintense T2-signal in the basal ganglia and white matter abnormalities with a cystic appearance in the frontal lobes. Ophthalmological evaluation disclosed Kayser-Fleisher rings ([Figure]). Ceruloplasmin was low and urinary copper was increased, and Wilson’s disease was diagnosed.
Wilson’s disease is an autosomal recessive disorder. Typical neurological features include akinetic-rigid syndrome, tremor, ataxia and dystonia[1],[2]. Neuroimaging usually shows signal abnormalities in the globus pallidus, putamen, caudate nucleus, thalamus and cerebral peduncles[1],[2]. Frontal white matter involvement mimicking leukodystrophy with cystic evolution is a rare presentation[3],[4].
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Conflict of interest:
There is no conflict of interest to declare.
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References
- 1 Bandmann O, Weiss KH, Kaler SG. Wilson’s disease and other neurological copper disorders. Lancet Neurol. 2015;14(1):103-13. https://doi.org/10.1016/S1474-4422(14)70190-5
- 2 Machado A, Chien HF, Deguti MM, Cançado E, Azevedo RS, Scaff M et al. Neurological manifestations in Wilson’s disease: report of 119 cases. Mov Disord. 2006;21(12):2192-6. https://doi.org/10.1002/mds.21170
- 3 Hedera P, Brewer GJ, Fink JK.. White matter changes in Wilson disease. Arch Neurol. 2002;59(5):866-7.
- 4 Trocello JM, Woimant F, El Balkhi S, Guichard JP, Poupon J, Chappuis P, Feillet F. Extensive striatal, cortical, and white matter brain MRI abnormalities in Wilson disease. Neurology. 2013;81(17):1557. https://doi.org/10.1212/WNL.0b013e3182a95883
Address for correspondence
Publication History
Received: 05 July 2016
Accepted: 08 November 2016
Article published online:
05 September 2023
© 2023. Academia Brasileira de Neurologia. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commecial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)
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References
- 1 Bandmann O, Weiss KH, Kaler SG. Wilson’s disease and other neurological copper disorders. Lancet Neurol. 2015;14(1):103-13. https://doi.org/10.1016/S1474-4422(14)70190-5
- 2 Machado A, Chien HF, Deguti MM, Cançado E, Azevedo RS, Scaff M et al. Neurological manifestations in Wilson’s disease: report of 119 cases. Mov Disord. 2006;21(12):2192-6. https://doi.org/10.1002/mds.21170
- 3 Hedera P, Brewer GJ, Fink JK.. White matter changes in Wilson disease. Arch Neurol. 2002;59(5):866-7.
- 4 Trocello JM, Woimant F, El Balkhi S, Guichard JP, Poupon J, Chappuis P, Feillet F. Extensive striatal, cortical, and white matter brain MRI abnormalities in Wilson disease. Neurology. 2013;81(17):1557. https://doi.org/10.1212/WNL.0b013e3182a95883