Open AccessWilson’s disease: neuroimaging features
Author(s) -
Francisco Costa Beber Lemanski,
Vitor Dalepiane Rossato,
Nathalia Beck Corrêa,
Letícia Reginato,
Gabriel Tarasconi Zanin
Publication year - 2021
Language(s) - English
Resource type - Conference proceedings
DOI - 10.5327/1516-3180.002
Subject(s) - putamen , basal ganglia , medicine , neuroimaging , midbrain , pons , hyperintensity , abnormality , thalamus , magnetic resonance imaging , pathology , white matter , neuroscience , anatomy , central nervous system , radiology , psychology , psychiatry
Background: Wilson’s disease (DW) is a genetic disorder characterized by the accumulation of copper in the body. The copper accumulation is systemic and occurs in several tissues, with the central nervous system (CNS) being one of the most affected sites. The use of imaging tests is not necessary for the diagnosis. However, in the suspicion of neurological damage, Magnetic Resonance Imaging (MRI) plays an important role in the assessment of the metal deposit in the CNS and in the clinico-anatomical correlation in symptomatic patients. Objectives: to identify the characteristic findings of DW in neuroimaging exams. Methods: a narrative literature review. Results: in MRI, the most affected sites in the CNS are the basal ganglia (mainly the outermost portion of the putamen), followed by the midbrain, the pons, and the thalamus. Alterations are bilaterally and symmetrically. T2 sequence reveals hyperintensity in putamen, the most common abnormality, as well as in the rest of the basal ganglia. Eventually, it is possible to identify the “panda sign” in the axial section of the midbrain, due to the involvement of the tegmental region associated with the normal signal of the red nuclei and hypointensity of the superior colliculus, characteristic of DW. In the T1 sequence, patients with neurological symptoms present hypointense images. Conclusions: MRI has a diagnostic and prognostic role in DW. The putamen is the most affected structure, but abnormalities in the pons, midbrain, and thalamus are part of the neuroimaging spectrum of Wilson’s disease. The “panda sign” is the classic MRI finding.