Radiological findings. MRI (A-D) and H-MRS (E) of patient 1 at 28 years of age. FLAIR (A-C) and T1 (D) sequences. MRI revealed the presence of white matter abnormalities hyperintense on FLAIR sequences, involving the periventricular regions (A-C) and the posterior part of corpus callosum (A) which was also severely atrophic (D). H-MRS (TE = 136 milliseconds) of the abnormal lobar white matter showed a severe reduction of the N-acetyl aspartate (NAA) peak, an increase of the choline (Cho) peak and a mild doublet inverted peak (white arrow) consistent with elevated lactate (lac).