Congenital muscular dystrophy with merosin deficiency: 1H MR spectroscopy and diffusion-weighted MR imaging

Abstract

Purpose: To prospectively use hydrogen 1 ((1)H) magnetic resonance (MR) spectroscopy and apparent diffusion coefficient (ADC) maps to try to explain the discrepancy between the extensive white matter (WM) abnormalities observed at MR imaging and the relatively mild neurocognitive decline in patients with merosin-deficient congenital muscular dystrophy (CMD).

Materials and methods: The hospital ethics committee approved this study, and informed consent was obtained. Nine patients (five boys, four girls; age range, 3-9 years; mean, 6 years +/- 2 [standard deviation]) with merosin-deficient CMD underwent T1-weighted, T2-weighted, fluid-attenuated inversion recovery, and diffusion-weighted MR imaging and (1)H MR spectroscopy, which was performed in the parieto-occipital WM (POWM) and frontal WM (FWM) by using stimulated-echo acquisition mode. Metabolite (N-acetylaspartate [NAA], choline-containing compounds [Cho], and myo-inositol [mI]) ratios were calculated in relation to creatine/phosphocreatine (Cr) and water (H(2)O). NAA/Cho was also calculated. ADCs were calculated in approximately the same locations that were studied with spectroscopy. For comparison, (1)H MR spectroscopy (n = 10) and ADC mapping (n = 7) were also performed in 10 healthy age- and sex-matched control subjects (three boys, seven girls; age range, 4-9 years; mean, 6 years +/- 1). Statistical analysis involved the t test for comparison between different groups; correlation between ADC and spectroscopy results was studied with the Pearson test.

Results: MR imaging revealed evidence of bilateral WM involvement in all patients. Whereas their NAA/Cr and Cho/Cr were normal, their mI/Cr was slightly increased compared with that in control subjects (P = .03 in FWM and P = .07 in POWM), and their NAA/Cho was decreased in POWM (P = .03). NAA/H(2)O, Cr/H(2)O, Cho/H(2)O, and mI/H(2)O were considerably decreased (P < .05 for all) and ADC values were increased (P < .001) in WM in all patients versus these values in WM in control subjects. There was significant correlation between ADC values and metabolite/water ratios (r = -0.777 to -0.967, P < .05).

Conclusion: ADC mapping and (1)H MR spectroscopy reveal abnormally high free-water concentrations in the WM of patients with merosin-deficient CMD.