MAGNETIC RESONANCE SPECTROSCOPY IN CHILDREN WITH NON-ACUTE NEUROLOGICAL ILLNESS
Journal Title: Journal of Evolution of Medical and Dental Sciences - Year 2018, Vol 7, Issue 20
Abstract
BACKGROUND The causes of non-acute neurological illness presenting as developmental delay and regression of attained milestones are frequently unknown, and clinicians and families can be frustrated by the lack of neuroimaging correlation especially when considering therapeutic options and long-term prognosis. The goal of our study is to determine if proton MR spectroscopy can depict abnormalities in patients with non-acute neurological illness with special reference to children with developmental delay and regression of attained milestones. MATERIALS AND METHODS This is a retrospective descriptive study, where imaging of 615 children with non-acute neurological illness were included. Among those, 424 children’s MR spectroscopy whose preliminary MRI showed predominantly normal or non-specific findings were analysed by two radiologists. MR spectroscopy was performed as per institutional protocol with multivoxel grid placed in bilateral subcortical white matter in the frontal and parieto-occipital regions, bilateral thalami and basal ganglia. The diagnosis was confirmed with biochemical, pathological, genetic studies and enzyme analysis. RESULTS Spectra of 198 children showed no specific findings in MRS to arrive at a specific diagnosis. Spectra of 153 children showed mild decrease in NAA and mild decrease in NAA/Cr ratio, which indicates neuronal depletion and is non-specific with no biochemical/genetic abnormality and were diagnosed as idiopathic developmental delay. 58 children were significantly different with smaller NAA peaks and decreased NAA/ Cr ratios were diagnosed as Neuronal Ceroid Lipofuscinosis, 3 children with elevated lipid peak at 0.9 and 1.3 ppm were diagnosed as Sjogren-Larsson Syndrome, 3 children with absent creatine peak were diagnosed as Cerebral creatine deficiency, 3 children with decreased NAA peak and mild elevated Cho/ Cr ratio were diagnosed as GM1 gangliosidosis. One child presented with non-specific white matter hyperintensity in MRI and elevated peak at 2 ppm similar to that of NAA was diagnosed as Salla disease. One child with broad based lipid peak at 0.9 - 1.3 ppm and was diagnosed as disorder of beta-oxidation of fatty acid. Two children showed single peak noted at 3.5 ppm denoting glycine and was diagnosed as hyperglycinaemia. Phenylalanine peaks were noted in two children at 7.36 ppm and were diagnosed as Phenylketonuria. CONCLUSION MRS is the useful surrogate study to arrive at a diagnosis in children with non-acute neurological illness presenting as delayed development children and regression of attained milestones.
Authors and Affiliations
Amarnath Chellathurai, Sukumar Ramaswami, Sebastian Antony Xavier, Thangalakshmi A, Sivakumar Kannappan, Balaji Ayyamperumal
Keywords
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- EP ID EP431406
- DOI 10.14260/jemds/2018/558
- Views 74
- Downloads 0
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