GM1-gangliosidosis in a Nigerian infant: A case report

Gangliosidoses belong to the group of genetic lipid metabolism disorders, caused by defects lysosome enzymes, inherited as an autosomal recessive trait. Gangliosidosis GM1 is deficiency acid beta-galactosidase (GLB11) resulting in storage substrate- ganglioside brain and visceral organs. gangliosidosis comprises three phenotypes, depending on age onset: infantile, juvenile adult type. In infantile type dysmorphic features, severe psychomotor retardation, hepatosplenomegaly, bone changes a cherry red spot macular region are seen. The has no such external distinguishing features. behavioural problems, dementia, extrapyramidal problems specifically prominent. authors present symptoms, clinical course laboratory findings one-year-old boy with diagnosed gangliosidosis. He presented skin rashes since birth, delay achievement developmental milestones, progressive weight loss recurrent diarrhoea six-months duration.