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RT Journal Article
SR Electronic
T1 Unusual Presentation of GM2 Gangliosidosis Mimicking a Brain Stem Tumor in a 3-Year-Old Girl
JF American Journal of Neuroradiology
JO Am. J. Neuroradiol.
FD American Society of Neuroradiology
SP 840
OP 842
VO 24
IS 5
A1 Nassogne, Marie-Cécile
A1 Commare, Marie-Christine
A1 Lellouch-Tubiana, Arielle
A1 Emond, Sophie
A1 Zerah, Michel
A1 Caillaud, Catherine
A1 Hertz-Pannier, Lucie
A1 Saudubray, Jean-Marie
YR 2003
UL http://www.ajnr.org/content/24/5/840.abstract
AB Summary: We report a case of GM2 gangliosidosis revealed by MR imaging of an isolated brain stem abnormality in a 3-year-old girl referred for gait difficulties related to ataxia and pyramidal signs. Brain MR imaging displayed a brain stem lesion with high signal intensity on fluid-attenuated inversion recovery and T2-weighted images, suggesting either a tumor or an inflammatory process. Stereotactic biopsy findings showed the presence of swollen neurons with storage material in lysosomes. Enzyme study revealed deficiency of hexosaminidase A, variant B1. Gangliosidoses should be considered in the differential diagnosis of isolated infiltrating brain stem lesions in childhood.