Affiliations: Department of Radiology, Santa Clara Valley Medical Center, San Jose, CA, USA | Department of Pediatrics, Santa Clara Valley Medical Center, San Jose, CA, USA
Note: [] Corresponding author: Kevin K. Lee, Santa Clara Valley Medical Center, Department of Radiology, 751 S. Bascom Avenue, San Jose, CA 95128, USA. Tel.: +1 408 237 0027; Fax: +1 408 885 6360; E-mail: Kevin.Lee@hhs.sccgov.org.
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.
Keywords: Late infantile gangliosidosis, low gradient echo signal, MRI, magnetic resonance spectroscopy