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American Journal of Neuroradiology 24:840-842, May 2003
© 2003 American Society of Neuroradiology

PEDIATRICS

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

Marie-Cécile Nassognea, Marie-Christine Commareb, Arielle Lellouch-Tubianac, Sophie Emondd, Michel Zerahe, Catherine Caillaudf, Lucie Hertz-Pannierd and Jean-Marie Saudubraya

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

Address correspondence to M. C. Nassogne, M.D., Ph.D., Service de Neurologie Pédiatrique, Cliniques Universitaires Saint-Luc, Avenue Hippocrate, 10/1062, B-1200 Bruxelles, Belgium

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.






Copyright © 2008 by the American Society of Neuroradiology. Print ISSN: 0195-6108 Online ISSN: 1936-959X