MRI EVALUATION OF THE BRAIN IN INFANTILE NEURONAL CEROID-LIPOFUSCINOSIS .1. POSTMORTEM MRI WITH HISTOPATHOLOGIC CORRELATION

The purpose of this study was to correlate postmortem magnetic resonan ce imaging (MRI) with histopathologic findings in brains of a series o f autopsied patients with infantile neuronal ceroid-lipofuscinosis, a recessively inherited progressive encephalopathy. Eight formalin-fixed brains (age range at death, 7 to 13 years) were examined with MRI. On e patient had also undergone brain MRI 2 years before death. Histopath ologic analyses were made from standard areas selected on the basis of the MRI scans. Postmortem MRI findings did not differ significantly f rom the findings in the patient who was also examined during life. Typ ical findings were extreme cerebral atrophy and hypointensity of the g ray-matter structures in relation to the white matter on T-2-weighted images, a pattern the reverse of normal. Characteristic histologic fin dings were almost complete loss of cortical neurons and secondary loss of axons and myelin sheaths in the white matter. The drastically alte red relative intensities of the gray- and white-matter structures on t he MRI scans reflected replacement of the neurons with hypertrophic as trocytes and/or macrophages filled with storage material.