title: Magnetic resonance imaging in neuronal ceroid lipofuscinosis and its subtypes.
abstract: 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.
authors.affiliation: Departments of Neurology, National Institute of Mental Health and Neurosciences; Bangalore, India - sanjib_sinha2004@yahoo.co.in.
authors.forename: R H
authors.initials: RH
authors.lastname: Jadav
authors.forename: S
authors.initials: S
authors.lastname: Sinha
authors.forename: T C
authors.initials: TC
authors.lastname: Yasha
authors.forename: H
authors.initials: H
authors.lastname: Aravinda
authors.forename: S
authors.initials: S
authors.lastname: Rao
authors.forename: P S
authors.initials: PS
authors.lastname: Bindu
authors.forename: P
authors.initials: P
authors.lastname: Satishchandra