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CC BY-NC-ND 4.0 · Arq Neuropsiquiatr 2017; 75(04): 260-261
DOI: 10.1590/0004-282X20170003
IMAGES IN NEUROLOGY

Frontal lobes white matter abnormalities mimicking cystic leukodystrophy in Wilson’s disease

Anormalidades na substância branca frontal mimetizando leucodistrofia cística na doença de Wilson
Flavio Moura Rezende Filho
1   Universidade Federal de São Paulo, Departamento de Neurologia e Neurocirurgia, Divisão de Neurologia Geral, São Paulo SP, Brasil.
,
Eva Rocha
1   Universidade Federal de São Paulo, Departamento de Neurologia e Neurocirurgia, Divisão de Neurologia Geral, São Paulo SP, Brasil.
,
Lívia Almeida Dutra
1   Universidade Federal de São Paulo, Departamento de Neurologia e Neurocirurgia, Divisão de Neurologia Geral, São Paulo SP, Brasil.
,
José Luiz Pedroso
1   Universidade Federal de São Paulo, Departamento de Neurologia e Neurocirurgia, Divisão de Neurologia Geral, São Paulo SP, Brasil.
,
Orlando G. P. Barsottini
1   Universidade Federal de São Paulo, Departamento de Neurologia e Neurocirurgia, Divisão de Neurologia Geral, São Paulo SP, Brasil.
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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.

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Figure A. Kayser-Fleischer ring (arrow). B and C: Axial FLAIR-weighted brain MRI shows a giant Panda sign and hyperintense signs in the basal ganglia. D, E and F: marked bilateral frontal leukoencephalopathy with cystic lesions.

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].



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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