MRI EVALUATION OF THE BRAIN IN INFANTILE NEURONAL CEROID-LIPOFUSCINOSIS .2. MRI FINDINGS IN 21 PATIENTS

The purpose of this study was to demonstrate the course of infantile n euronal ceroid-lipofuscinosis with brain magnetic resonance imaging (M RI) in children aged 3 months to 11 years. Twenty-one patients and 46 neurologically normal controls of the same age were examined. The imag es were evaluated visually; then signal intensities were measured and related to those of references. MRI abnormalities were detectable befo re clinical symptoms. The radiologic picture of the brain varied with the duration of the disease. Pathognomonic MRI findings in the early s tage of the disease were generalized cerebral atrophy, strong thalamic hypointensity to the white matter and to the basal ganglia, and thin periventricular high-signal rims from 13 months onward on T-2-weighted images. In patients over 4 years old, cerebral atrophy was extreme, a nd the signal intensity of the entire white matter was higher than tha t of the gray matter, which is the reverse of normal. This study showe d that the abnormalities seen on MRI progress rapidly during the first 4 years of life, then stabilize, in conformity with the clinical acid histopathologic pictures of infantile neuronal ceroid-lipofuscinosis.