Proton MR spectroscopy of the brain in patients with congenital myotonic dystrophy

: Volume selective proton MR spectroscopy (1H-MRS) of the brain was performed on a 1.5T magnet in five patients with congenital muscular dystrophy (CMyD), 46 healthy children, and one healthy adult. Peaks of N-acetylaspartate (NAA), choline (Cho) and creatine (Cr) were observed in both patients and control groups on 1H-MRS, but lactate was not observed. 1H-MRS revealed an increase in the ratio of NAA/Cho and NAA/Cr, and a decrease in Cho/Cr ratio with age in control subjects. In patients with CMyD, the values of NAA/Cho ratio did not increase with age. The values of NAA/Cr ratio decreased with age. The values of Cho/Cr ratio decreased with age in both patient and control groups. At age more than 4 years, the values of NAA/Cho and NAA/Cr ratios were lower in patients with CMyD than in controls. The values of Cho/Cr ratio did not differ between CMyD and controls. These results suggest that in patients with CMyD, there is an NAA decrease and a developmental disorder of neurons in the brain.