Research ArticlePEDIATRICS
Unusual Presentation of GM2 Gangliosidosis Mimicking a Brain Stem Tumor in a 3-Year-Old Girl
Marie-Cécile Nassogne, Marie-Christine Commare, Arielle Lellouch-Tubiana, Sophie Emond, Michel Zerah, Catherine Caillaud, Lucie Hertz-Pannier and Jean-Marie Saudubray
American Journal of Neuroradiology May 2003, 24 (5) 840-842;
Marie-Cécile Nassogne
Marie-Christine Commare
Arielle Lellouch-Tubiana
Sophie Emond
Michel Zerah
Catherine Caillaud
Lucie Hertz-Pannier

References
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- ↵Lyon G, Adams RD, Kolodny EH. Neurology of Hereditary Metabolic Diseases of Children. 2d ed. New York: McGraw-Hill;1996;141:235–237
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- ↵De Gasperi R, Gama Sosa MA, Battistini S, et al. Late-onset GM2 gangliosidosis: Ashkenazi Jewish family with an exon 5 mutation (Tyr180-His) in the Hex A α-chain gene. Neurology 1996;47:547–552
- ↵Goebel HH, Stolte G, Kustermann-Kuhn B, Harzer K. B1 variant of GM2 gangliosidosis in a 12-year-old patient. Pediatric Res 1989;25:89–93
- ↵Streifler JY, Gornish M, Hadar H, Gadoth N. Brain imaging in late-onset GM2 gangliosidosis. Neurology 1993;43:2055–2058
- ↵Hund E, Grau A, Fogel W, et al. Progressive cerebellar ataxia, proximal neurogenic weakness and ocular motor disturbances: hexosaminidase A deficiency with late clinical onset in four siblings. J Neurol Sci 1997;145:25–31
- ↵Sandhoff K, Conzelmann E, Neufeld EF, et al. The GM2 gangliosidoses. In Scriver CR, Beaudet AL, Sly VS, Valle D, eds. The metabolic basis of inherited disease. 6th ed. New York: McGraw-Hill;1989 :1807–1842
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Marie-Cécile Nassogne, Marie-Christine Commare, Arielle Lellouch-Tubiana, Sophie Emond, Michel Zerah, Catherine Caillaud, Lucie Hertz-Pannier, Jean-Marie Saudubray
Unusual Presentation of GM2 Gangliosidosis Mimicking a Brain Stem Tumor in a 3-Year-Old Girl
American Journal of Neuroradiology May 2003, 24 (5) 840-842;
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Unusual Presentation of GM2 Gangliosidosis Mimicking a Brain Stem Tumor in a 3-Year-Old Girl
Marie-Cécile Nassogne, Marie-Christine Commare, Arielle Lellouch-Tubiana, Sophie Emond, Michel Zerah, Catherine Caillaud, Lucie Hertz-Pannier, Jean-Marie Saudubray
American Journal of Neuroradiology May 2003, 24 (5) 840-842;
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