Proton MR spectroscopy reveals lactate in infantile neuroaxonal dystrophy (INAD)

Changes of cerebral metabolites detected by proton MR spectroscopy in two c ases of infantile neuroaxonal dystrophy are described. A 611/12-year-old bo y and a girl (aged 41/12 years at the first and 52/12 years at the second e xamination) with infantile neuroaxonal dystrophy were investigated by magne tic resonance imaging and spectroscopy of the basal ganglia, The signal int ensity of the cerebellar cortex was increased on T,weighted, proton density , and fluid attenuated inversion recovery images. The long echo time (135 m s) spectra revealed the presence of lactate in the basal ganglia of both ca ses in all investigations. The N-acetylaspartate/creatine ratio was reduced in Case 1 and in the second investigation of Case 2. The choline/creatine ratio was always increased. As the diagnosis of infantile neuroaxonal dystrophy is made by a synopsis o f Various clinical, neuropathological, neurophysiological, and neuroradiolo gical data, the presence of lactate in the basal ganglia spectra may help t o narrow down the diagnosis and can support the decision to perform mote in vasive diagnostic procedures (such as biopsies of skin, conjunctiva or even of the brain).