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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 KayserFleisher 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 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.

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