DOI: 10.36347/sjmcr.2023.v11i08.023

Pages: 1519-1521

GM1 gangliosidos is describes a family of disorders that result from deficient activity of the lysosomal hydrolase, β-galactosidase, and which manifest varying degrees of neurodegeneration, retinal cherry-red spots, and visceromegaly. The three traditional subgroups of infantile, juvenile, and adult GM1 gangliosidosis show phenotypic overlap, although in general, the earlier the onset, the more severe the manifestations. This article gives an overview of the clinical signs in a patient with GM1 type 1 gangliosidosis revealed by fetoplacental hydrops syndrome.