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MRI pattern recognition of neuroceroid lipofuschinosis in children

Objectives: A systematic pattern recognition of Magnetic resonance imaging of brain can provide clues to the diagnosis of neuronal ceroid lipofuschinosis (NCL) in children and can even suggest the possible subtype of NCL also. This is very important in the current era when we get variants of unknown significance results on genetic tests. There have been very few studies on MRI in children with especially in the subtypes. We here present our data on the salient MRI findings in confirmed cases of NCL. Methods: MRI brain of 56 children with confirmed diagnosis of NCL (enzymatically and/or genetically) was carefully analysed. The abnormalities found were compared with sub-type of NCL and MRI findings in a given subtype were compared at different time points when more than one scan was available. It was a retrospective study in a single tertiary care centre in south-India over the last decade. Results: Most cases showed cerebral and cerebellar atrophy with signal changes in the basal ganglia including thalami. Many of them showed subtle white-matter hyperintensities in the periventricular white matter also. The salient MRI findings in different subtypes of NCL is shown in table-1. The changes are characteristic and suggestive of the subtype at presentation. Towards the end-stage of the disease the findings are nonspecific. Conclusions: Initial MRI in children with NCL suggests the diagnosis and provide useful clues to the subtype also.