MR imaging findings in 2 cases of late infantile 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.
De Grandis
E
E
Division of Child Neuropsychiatry, Gaslini Institute, University of Genoa, Genoa, Italy. elisadegrandis@yahoo.it
Di Rocco
M
M
Pessagno
A
A
Veneselli
E
E
Rossi
A
A
D001921:Brain / Q000473:pathology*; D002648:Child; D005260:Female; D016537:Gangliosidosis, GM1 / Q000473:pathology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D055815:Young Adult