Brain morphometry in hepatic Wilson disease patients

• DOI: 10.1002/jimd.12814
• Publication Date: 2024-11-20T00:24:25Z
• Authors: Parya Rahimi; Stanislav Mareček; Radan Brůha; Monika Dezortová; Petr Sojka; Milan Hájek; Marta Skowrońska; Łukasz Smoliński; Petr Urbánek; Tomasz Litwin; Petr Dušek
• Keywords: Putamen; Pons; Voxel-based morphometry

Abstract Wilson disease (WD) primarily presents with hepatic and neurological symptoms. While symptoms typically precede the manifestations, copper accumulates in brain already this patient group leads to subclinical MRI abnormalities including T2 hyperintensities atrophy. This study aimed assess morphological changes mild WD. WD patients without a history of neurologic decompensated cirrhosis control participants underwent at 3T scanner high‐resolution T1‐weighted images. A volumetric evaluation was conducted on following regions: nucleus accumbens, caudate, pallidum, putamen, thalamus, amygdala, hippocampus, midbrain, pons, cerebellar gray matter, white matter (WM), superior peduncle, using Freesurfer v7 software. Whole‐brain analyses voxel‐ surface‐based morphometry were performed SPM12. Statistical comparisons utilized general linear model adjusted for total intracranial volume, age, sex. Twenty‐six form (30 ± 9 years [mean age SD]); 11 women; mean treatment duration 13 12 (range 0–42) 28 healthy controls (33 years; 15 women) evaluated. Volumetric analysis revealed significantly smaller pons volume trend midbrain WM compared controls. regions reduced cerebellar, lobar group. No significant differences density or cortical thickness found. Myelin seems vulnerable low‐level toxicity, loss showing promise as marker assessing involvement early stages.