Low gradient echo parenchymal signal in late infantile GM1 gangliosidosis

Abstract

GM1 gangliosidosis is a rare storage disorder caused by a deficiency of lysosomal beta-galactosidase. Symptoms are nonspecific and include profound central nervous system involvement, and visceral and musculoskeletal manifestations. We report a case of late infantile GM1 gangliosidosis with magnetic resonance imaging manifestations that have not been previously described. These include regions of patchy parenchymal gradient echo signal loss, progressive atrophic changes, and magnetic resonance spectroscopy demonstrating decreased N-acetyl aspartate, and increased choline and myoinositol peaks.