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

[gm1 gangliosidosis]

GM 1 gangliosidosis is a rare disease due to mutations in the GLB 1 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 .The patient in this study had dysmorphism , dysostosis , progressive dystonia , and T 2 hypointensity in the basal ganglia . Partially similar clinical and radiologic findings were described previously in two reports .T 2 hypointensity in the globus pallidus should , in the appropriate clinical setting , lead to consideration of the diagnosis of GM 1 gangliosidosis .