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 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].
