Srishty Thakur, Rajniti Prasad*, Ankur Singh, Abhishek Abhinay, Ashwini Kumar and Gargi Sinha

Division of Pediatric Neurology, Department of Pediatrics, I.M.S., B.H.U, Varanasi- 221005, India

*Corresponding Author: Rajniti Prasad, Professor, Division of Pediatric Neurology, Department of Pediatrics, I.M.S., B.H.U, Varanasi- 221005, India.

Received: March 04, 2026; Published: May 31, 2026

Abstract

GM1 gangliosidosis is a rare autosomal recessive lysosomal storage disorder caused by a deficiency of β-galactosidase due to pathogenic variants in the GLB1 gene. Late-infantile GM1 gangliosidosis typically presents after a period of normal development with progressive neuroregression and variable systemic involvement. We report an 18 months male child born to non-consanguineous parents, with normal early development, who presented with rapid neuroregression, central hypotonia, seizures, and hepatosplenomegaly, without coarse facial features, dermal melanocytosis (Mongolian spots), or cherry-red macula. Neuroimaging revealed bilateral thalamic signal abnormalities with diffuse white-matter involvement. Whole exome sequencing identified a homozygous missense variant in exon 10 of the GLB1 gene (c.1024G>T; p.Asp342Tyr), classified as a variant of uncertain significance. The clinico-radiological and molecular findings supported a probable diagnosis of late-infantile GM1 gangliosidosis. This case highlights the phenotypic overlap between infantile and late-infantile GM1 gangliosidosis and emphasises the diagnostic challenges associated with atypical presentations.

Keywords: Gangliosidosis; Lysosomal; Late Infantile; Neuroregression

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Citation

Citation: Rajniti Prasad., et al. “Late-Infantile GM1 Gangliosidosis Presenting with Rapid Neuroregression: A Case Report". Acta Scientific Neurology 9.6 (2026): 12-15.

Copyright

Copyright: ©2026 Rajniti Prasad., et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.