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PT  - JOURNAL ARTICLE
AU  - Nassogne, Marie-Cécile
AU  - Commare, Marie-Christine
AU  - Lellouch-Tubiana, Arielle
AU  - Emond, Sophie
AU  - Zerah, Michel
AU  - Caillaud, Catherine
AU  - Hertz-Pannier, Lucie
AU  - Saudubray, Jean-Marie
TI  - Unusual Presentation of GM2 Gangliosidosis Mimicking a Brain Stem Tumor in a 3-Year-Old Girl
DP  - 2003 May 01
TA  - American Journal of Neuroradiology
PG  - 840--842
VI  - 24
IP  - 5
4099  - http://www.ajnr.org/content/24/5/840.short
4100  - http://www.ajnr.org/content/24/5/840.full
SO  - Am. J. Neuroradiol.2003 May 01; 24
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.