Multimodal magnetic resonance imaging analysis in the characteristics of Wilson’s disease: A case report and literature review

Abstract

Wilson’s disease (WD) is an inherited disorder of copper metabolism. Multimodal magnetic resonance imaging (MRI) has been reported to provide evidence of the extent and severity of brain lesions. However, there are few studies related to the diagnosis of WD with multimodal MRI. Here, we reported a WD patient who was subjected to Sanger sequencing, conventional MRI, and multimodal MRI examinations, including susceptibility-weighted imaging (SWI) and arterial spin labeling (ASL). Sanger sequencing demonstrated two pathogenic mutations in exon 8 of the ATP7B gene. Slit-lamp examination revealed the presence of Kayser–Fleischer rings in both eyes, as well as low serum ceruloplasmin and high 24-h urinary copper excretion on admission. Although the substantia nigra, red nucleus, and lenticular nucleus on T1-weighted imaging and T2-weighted imaging were normal, SWI and ASL showed hypointensities in these regions. Besides, decreased cerebral blood flow was found in the lenticular nucleus and the head of caudate nucleus. The patient recovered well after 1 year and 9 months of follow-up, with only a Unified Wilson Disease Rating Scale score of 1 for neurological symptom. Brain multimodal MRI provided a thorough insight into the WD, which might make up for the deficiency of conventional MRI.

Functional Brain MRI as a Diagnostic Tool for Detecting Neurological Changes in Children with Wilson’s Disease

“…Our study delved into the correlation between diffusion MRI results and neurological manifestations in individuals with WD and revealed no noteworthy distinctions in apparent diffusion coefficient (ADC) values and diffusion-weighted imaging (DWI) findings, or T1 and T2/FLAIR intensity characteristics between patients with and without neurological manifestations. Despite the absence of significant disparities, the need for additional exploration using larger cohorts and comprehensive protocols is evident to comprehend the nuanced relationship, as suggested by Wang et al (13) .…”