GM1 gangliosidosis, late infantile onset dystonia, and T2 Hypointensity in the globus pallidus and substantia Nigra

Abstract

Background: GM1 gangliosidosis is a rare disease due to mutations in the GLB1 gene and autosomal recessive deficiency of β-galactosidase. There is considerable overlap between classical phenotypes and clinical and imaging findings, which are often difficult to interpret.

Patient: The patient in this study had dysmorphism, dysostosis, progressive dystonia, and T2 hypointensity in the basal ganglia. Partially similar clinical and radiologic findings were described previously in two reports.

Conclusions: T2 hypointensity in the globus pallidus should, in the appropriate clinical setting, lead to consideration of the diagnosis of GM1 gangliosidosis.