By the time she diagnosed with GM1 Gangliosidoses she is no more: Case Presentation

Abstract

Beta-galactosidase-1 deficiency is rare lysosomal storage disorder which is also called as GLB1 deficiency or Landing disease. It is an autosomal recessive disorder whose age of onset is usually child hood. Deficiency of beta – galatosidase enzyme due to mutations of GLB1 gene results in toxic accumulation of gangliosides in either body tissues or particularly in the central nervous system which ultimately ends up in neurovisceral, ophthalmological and dysmorphic features. The types of GM1 gangliosidosis is based on the age of onset; infantile form which is severe and rapidly progressive, a late infantile or juvenile form with onset usually from seventh month to 3 years of age accompanied with delayed motor and cognitive development and thirdly an adult or chronic form with late onset characterized by generalized dystonia. The severity of disease depends on the level of beta – galactosidase activity. Due to the wide spectrum of disease, the diagnosis may be difficult. Facial coarsening, hypertrophic gums, cherry -red macula, visceromegaly, dysostosis and psychomotor are some signs of storage disorders which may help to diagnose GM1 gangliosidosis. The confirmative diagnosis is biochemical assay of beta – galactosidase activity by molecular genetic testing. GLB1 molecular analysis can be done either by chorionic villus or amniotic cells as prenatal diagnosis. There is no specific treatment for GM1 gangliosidosis; treatment is symptomatic as well as supportive. Extremely poor prognosis found in severe infantile form.