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.

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 dystonia¹,². Neuroimaging usually shows signal abnormalities in the globus pallidus, putamen, caudate nucleus, thalamus and cerebral peduncles¹,². Frontal white matter involvement mimicking leukodystrophy with cystic evolution is a rare presentation³,⁴.

References

• ¹
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• 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
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• 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
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Publication Dates

• Publication in this collection
  Apr 2017

History

• Received
  05 July 2016
• Accepted
  08 Nov 2016