Rare Diseases Symptoms Automatic Extraction

MR imaging findings in 2 cases of late infantile GM1 gangliosidosis.

[gm1 gangliosidosis]

Late infantile GM1 gangliosidosis is a rare lysosomal disorder characterized by mental deterioration and progressive spastic, cerebellar, and extrapyramidal signs, without facial dysmorphisms and organomegaly. Neuroimaging findings have been reported in only a few cases. Here we report on predominant globus pallidus MR signal-intensity abnormalities in 2 patients with the late infantile form of GM1 gangliosidosis.