MR-IMAGING AND PROTON MR SPECTROSCOPY IN A-TO-G SUBSTITUTION AT NUCLEOTIDE POSITION-3243 OF LEUCINE TRANSFER-RNA

MR imaging of the brain in a 38-year-old woman with maternally inherit ed diabetes and deafness (MIDD) showed extensive subcortical and basal ganglia high signal intensity on T2-weighted studies though she was n eurologically asymptomatic. High-signal-intensity changes were also se en in the basal ganglia on T1-weighted studies. Proton MR spectroscopy showed increased lactate, an increased choline/creatine ratio, and a decreased N-acetylaspartate/creatine ratio. Our observations suggest t hat patients with MIDD may have subclinical neurologic dysfunction ide ntifiable by proton MR spectroscopy.