"MR spectroscopy may demonstrate an elevated lactate peak and a reduced NAA-creatine ratio, in areas of diffusion restriction10."
"Alpers syndrome, also known as Alpers-Huttenlocher syndrome or progressive cerebral poliodystrophy, is a rare childhood neurodegenerative POLG-related disorder. Along with Leigh syndrome, it is one of the commonest childhood mitochondrial disorders 1."
"prior to development of POLG-related neurological manifestations, features of chronic hepatic encephalopathy, such as increased signal intensity on T1-weighted sequences in the globi pallidi and subthalamic regions, or acute hepatic encephalopathy may be seen 10"
"MR spectroscopy may demonstrate an elevated lactate peak and a reduced NAA-creatine ratio, in areas of diffusion restriction10."
"POLG-related disorders"
"Autosomal recessive mutations in the DNA Polymerase Gamma, Catalytic Subunit (POLG) gene have been implicated in the majority of cases 5."
"regions of increased signal intensity on T2-weighted sequences with associated diffusion restriction, most often in the occipital lobes and thalami, involving both the cortex and deep gray matter 7-9"
"MR spectroscopy may demonstrate an elevated lactate peak and a reduced NAA-creatine ratio, in areas of diffusion restriction10."