Clinico-Etiological Spectrum of Children with Bilateral Basal ganglia lesions: An Observational Study from A Tertiary Care Centre

Background: Basal ganglia, site of high adenosine triphosphate (ATP) production is affected with various disorders. Observational study aims to analyze etiological and radiological spectrum of this entity.

Methodology: We enrolled children from 2months to 18 yr of age with bilateral basal ganglia lesions from August,2020 to December,2021. Exclusion- perinatal asphyxia and kernicterus.

Results: 46 children were enrolled. MRI in 41 and CT Brain in 5. 25/41 had definitive diagnoses. 13 had confirmed genetic diagnoses, 12 acquired pathologies, 5 presumed genetic etiology with WES/CES negative, 9 presumed genetic etiology-test not sent or report awaited. MRI were categorized into 4 clusters of basal ganglia lesions (1) Cluster 1- T2W HI Putamen (34/41), cluster 2 - T2W HI GP OR Inc Susceptibility in GP (4/41), cluster 3 -T2W HI, DR GP, BS, Cerebellum (1/41) and cluster 4 pattern -T1W HI BG (1/41). Mitochondrial disorders (7/11) and organic acidemias (2/11) in cluster one. Nutritional thiamine deficiency, Jap B encephalitis, Rickettsial infection, MOGAD are among non-genetic diagnoses in cluster 1 pattern. In cluster 2, one each pyruvate dehydrogenase e1 alpha deficiency and GAMT mutation. Custer 3- acquired thiamine deficiency. cluster 4 one had SLC30A10 pathogenic variant. 1 with substantial nigra and thalamus not fitting the clusters had MTO1 mutation. Cluster distribution is similar to study by Mohammad et al.

Conclusion: Most common basal ganglia lesions involve bilateral striatum with mitochondrial disorders followed by infective and demyelinating diseases. Categorization into cluster patterns narrows down the differential diagnoses.
Keywords: Basal ganglia, neuroimaging