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

PURPOSE: Although brain magnetic resonance spectroscopy (MRS) imaging findings in adult Wilson disease (WD) have been explained in extensive details, a paucity of information currently exists regarding brain MRS imaging findings in pediatric WD. The purpose of this study was to clarify the role of brain MRS in detecting early metabolite abnormalities in children with WD.

PATIENT AND METHODS: A case-controlled prospective study included 26 children with WD and 26 healthy controls. All children were subjected to examination on a 1.5 T MRI scanner. The spectra of N-acetyl aspartate (NAA), choline (Cho), and creatine (Cr), as well as the metabolite ratios of NAA/Cho, NAA/Cr, and Cho/Cr, were measured and compared between two groups.

RESULTS: Eight patients revealed increased signal intensity in the basal ganglia at T1-weighted images. When compared with healthy controls, WD patients showed a significant decrease (p <  0.05) in NAA (63.8 ± 9.6 vs 97.6 ± 3.8), Cho (46.7 ± 8.9 vs 87.3 ± 4.7), Cr (44 ± 10.1 vs 81.9 ± 4.05), NAA/Cho (1.92 ± 1.2 vs 3.34 ± 0.55), NAA/Cr (1.29 ± 0.7 vs 2.46 ± 0.34), and Cho/Cr (0.78 ± 0.4 vs 2 ± 0.13). Patients complicated with liver cell failure showed a significant decrease in all previous parameters (p <  0.05) than patients without complications. Patients with mixed neurological and hepatic diseases showed a severe reduction in NAA, NAA/Cr, and NAA/Cho compared with patients with hepatic disease only.

CONCLUSION: MRS in pediatric WD detects early neurological changes even with normal MRI.