Brain magnetic resonance spectroscopy (MRS) as a diagnostic tool for detecting early neurological changes in children with Wilson’s disease

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

“…Multimodal MRI refers to the combination of conventional MR scanning sequences and multiple functional MRI techniques, thereby achieving the complementary functions of multiple scanning sequences, and provides more detailed information for the diagnosis of diseases [ 16 ]. Although multimodal MRI has not been used as a diagnostic criterion for the WD due to its late emergence, evidence indicates that it exerts higher sensitivity and specificity in the detection of WD when compared with conventional MRI [ 6 , 8 ]. In this study, multimodal MRI techniques, including ASL and SWI, were used to describe the characteristics of neurologic WD.…”

“…It has been suggested that copper-induced cell injury results in reduced N-alanine aspartate/creatine ratio in WD patients, which may be partially reversed after chelation treatment [ 27 ]. A study conducted by Alkhalik Basha et al found that there were significant differences in the mean values of N-alanine aspartate, choline, creatine, and N-alanine aspartate/creatine in MRS between WD patients and control groups, while no abnormalities were noticed in brain MRI, indicating that MRS can assist MRI in the assessment of WD [ 6 ]. In the current research, no significant change was observed in the lenticular nucleus and midbrain of the WD patient.…”

“…Brain magnetic resonance imaging (MRI) is a crucial tool that can provide evidence of the morphological characteristics and functional changes of brain lesions, and abnormalities in brain MRI are present in more than 90% of neurological WD patients [ 5 ]. Multimodal MRI techniques, such as susceptibility-weighted imaging (SWI), arterial spin labeling (ASL), magnetic resonance spectroscopy (MRS), resting-state functional MRI, and diffusion tensor imaging (DTI), have been widely used for the clinical diagnosis of cancers, cerebral infarction, and neural degenerative diseases [ 6 – 8 ]. The MRI features of untreated WD cases are central pontine myelinolysis-like abnormality, tectal plate hyperintensity, giant panda face, and synchronous signal changes in thalamus, brain stem, and basal ganglia [ 9 ].…”

Wilson disease in children and adolescents

“…It detects metabolite abnormalities before structural changes become visible on MRI, and its use has been well described in adults with WD. Recent studies in paediatric WD confirmed this imaging modality detects early neurological changes even with normal MRI and could provide crucial information for monitoring disease progression 29…”

Adolescent with behavioural changes: Diagnostic clues?

“…WD is a rare genetic disorder of copper metabolism affecting the brain, liver, eyes, kidney, and other organs. MRI in WD is quite variable, ranging from normal MRI to bilateral symmetrical signal changes involving basal ganglia, external capsule, thalami, midbrain and pons.1 The uncommon neuroimaging features are confluent signal changes in subcortical white matter and grey matter of frontal, parietal and temporal cortex 1–3 . The ‘lentiform fork’ sign is described as bilateral symmetrical T2/FLAIR‐weighted hyperintense signal changes in basal ganglia surrounded by a brighter hyperintense rim delineating the lentiform nucleus 4 .…”