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AJNR - American Journal of Neuroradiology

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Unusual Presentation of GM2 Gangliosidosis Mimicking a Brain Stem Tumor in a 3-Year-Old Girl

Marie-Cécile Nassogne^a, Marie-Christine Commare^b, Arielle Lellouch-Tubiana^c, Sophie Emond^d, Michel Zerah^e, Catherine Caillaud^f, Lucie Hertz-Pannier^d and Jean-Marie Saudubray^a

^a Service de Maladies Métaboliques, Neurologie et Génétique, Hôpital Cochin, Paris, France
^b Unité de Réadaptation fonctionnelle, Hôpital Cochin, Paris, France
^c Service d’Anatomie Pathologique, Hôpital Cochin, Paris, France
^d Service de Radiologie Pédiatrique, Hôpital Cochin, Paris, France
^d Service de Neurochirurgie; Hôpital Necker-Enfants Malades; Hôpital Cochin, Paris, France
^d Laboratoire de Génétique, Hôpital Cochin, Paris, France

View larger version (146K): [in a new window]   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.

View larger version (154K): [in a new window]   FIG 2. Stereotactic brain biopsy. Swollen neurons filled with granular material stain strongly with Luxol Fast Blue (x400).