EARLY DIFFERENTIAL-DIAGNOSIS OF INFANTILE NEURONAL CEROID-LIPOFUSCINOSIS, RETT-SYNDROME, AND KRABBE DISEASE BY CT AND MR

PURPOSE: To compare early radiologic findings in three clinically simi lar progressive encephalopathies of childhood. METHODS: Brain CT and/o r MR studies were done in 57 children 3 to 36 months of age: 16 with i nfantile neuronal ceroid lipofuscinosis, 5 with Rett syndrome, 6 with Krabbe disease, and 30 control subjects with normal neurologic status. In addition, previous descriptions in the literature were collected. RESULTS: No significant changes were seen in Rett syndrome. Early atro phy was found in infantile neuronal ceroid lipofuscinosis and in Krabb e disease, being more severe in the latter. The thalami were hyperdens e in 4 of 13 patients with infantile neuronal ceroid lipofuscinosis an d in 1 of 4 patients with Krabbe disease (in the literature in 12 of 3 0 examinations). Cerebral calcifications and density abnormalities in the cerebral and cerebellar white matter were seen in Krabbe disease o nly. On MR, the white matter changes in the two diseases were differen tly located. In every patient with infantile neuronal ceroid lipofusci nosis, decreased T2 signal was seen in the thalami and periventricular high-signal rims after the age of 13 months. Hypointensity of the tha lami and basal ganglia was seen in both diseases, but Krabbe disease s howed more variations. Abnormalities of cerebellar intensity were foun d in Krabbe disease only. CONCLUSIONS: CT and MR are of value in the d ifferential diagnosis of these three diseases. MR especially facilitat es the early diagnosis of infantile neuronal ceroid lipofuscinosis.