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Case Reports
. 2003 May;24(5):840-2.

Unusual presentation of GM2 gangliosidosis mimicking a brain stem tumor in a 3-year-old girl

Marie-Cécile Nassogne  1 , Marie-Christine Commare, Arielle Lellouch-Tubiana, Sophie Emond, Michel Zerah, Catherine Caillaud, Lucie Hertz-Pannier, Jean-Marie Saudubray
Affiliations
Case Reports

Unusual presentation of GM2 gangliosidosis mimicking a brain stem tumor in a 3-year-old girl

Marie-Cécile Nassogne et al. AJNR Am J Neuroradiol. 2003 May.

Abstract

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.

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Figures

F<sc>ig</sc> 1.
Fig 1.
Brain MR imaging. A, Axial T2-weighted MR image, showing asymmetric involvement of the brain stem and in cerebellar peduncles with high signal intensity. B, Axial FLAIR-imaging, which confirms a severe diffuse involvement of the medulla.
F<sc>ig</sc> 2.
Fig 2.
Stereotactic brain biopsy. Swollen neurons filled with granular material stain strongly with Luxol Fast Blue (×400).
See this image and copyright information in PMC

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