Magnetic resonance imaging in neuronal ceroid lipofuscinosis and its subtypes

Studies on magnetic resonance imaging (MRI) observations in neuronal ceroid lipofuscinosis (NCL) are few and far between. We evaluated the MRI characteristics of patients with NCL and its subtypes. Forty-three out of 68 patients with ultrastructurally confirmed NCL (M:F=46:22; age at evaluation: 6.3±5.2 years) underwent brain MRI evaluation (1998-2010). The demography, phenotype and subtypes of NCL (n=43) [infantile (I-NCL): 5; late infantile (LI-NCL): 26; Juvenile (J-NCL): 11; adult (A-NCL): 1] were recorded. MRI (brain) was carried out using standard sequences in all. Brain atrophy and signal alterations were assessed visually. Brain MRI was abnormal in all 43 patients - diffuse cerebral atrophy (100%), cerebellar atrophy (40%), cerebral leucoencephalopathy (65%) and thalamic T2W-hypointensity (33%). Diffuse cerebral atrophy was noted in: I-NCL (100%), LI-NCL (62%), J-NCL (36%) and A-NCL (100%) [p=0.05]. Cerebellar atrophy was present in: LI-NCL (42%) and J-NCL (55%). Leucoencephalopathy was observed in: I- NCL (100%), LI-NCL (65%), J-NCL (45%) and A-NCL (100%)). Thalamic T2W-hypointensity was most frequent in I-NCL (80%) followed by J-NCL (36%) and LI-NCL (23%). This is the largest study of its kind. The presence of cerebellar/cerebral atrophy, leucoencephalopathy and thalamic T2W-hypointensity in an appropriate clinical setting might provide clues to the diagnosis of NCL: leucoencephalopathy and thalamic hypointensity (T2W) were noted more frequently in I-NCL, periventricular and parieto-occipital hyperintensities in LI-NCL, and cerebellar atrophy in J-NCL.