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Jean-marie Saudubray - One of the best experts on this subject based on the ideXlab platform.

  • Unusual Presentation of GM2 Gangliosidosis Mimicking a Brain Stem Tumor in a 3-Year-Old Girl
    American Journal of Neuroradiology, 2003
    Co-Authors: Marie-cécile Nassogne, Marie-christine Commare, Sophie Emond, Arielle Lellouch-tubiana, Lucie Hertz-pannier, Michel Zerah, Catherine Caillaud, Jean-marie Saudubray
    Abstract:

    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.

Marie-cécile Nassogne - One of the best experts on this subject based on the ideXlab platform.

  • Unusual Presentation of GM2 Gangliosidosis Mimicking a Brain Stem Tumor in a 3-Year-Old Girl
    American Journal of Neuroradiology, 2003
    Co-Authors: Marie-cécile Nassogne, Marie-christine Commare, Sophie Emond, Arielle Lellouch-tubiana, Lucie Hertz-pannier, Michel Zerah, Catherine Caillaud, Jean-marie Saudubray
    Abstract:

    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.

Marie-christine Commare - One of the best experts on this subject based on the ideXlab platform.

  • Unusual Presentation of GM2 Gangliosidosis Mimicking a Brain Stem Tumor in a 3-Year-Old Girl
    American Journal of Neuroradiology, 2003
    Co-Authors: Marie-cécile Nassogne, Marie-christine Commare, Sophie Emond, Arielle Lellouch-tubiana, Lucie Hertz-pannier, Michel Zerah, Catherine Caillaud, Jean-marie Saudubray
    Abstract:

    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.

Sophie Emond - One of the best experts on this subject based on the ideXlab platform.

  • Unusual Presentation of GM2 Gangliosidosis Mimicking a Brain Stem Tumor in a 3-Year-Old Girl
    American Journal of Neuroradiology, 2003
    Co-Authors: Marie-cécile Nassogne, Marie-christine Commare, Sophie Emond, Arielle Lellouch-tubiana, Lucie Hertz-pannier, Michel Zerah, Catherine Caillaud, Jean-marie Saudubray
    Abstract:

    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.

Michel Zerah - One of the best experts on this subject based on the ideXlab platform.

  • Unusual Presentation of GM2 Gangliosidosis Mimicking a Brain Stem Tumor in a 3-Year-Old Girl
    American Journal of Neuroradiology, 2003
    Co-Authors: Marie-cécile Nassogne, Marie-christine Commare, Sophie Emond, Arielle Lellouch-tubiana, Lucie Hertz-pannier, Michel Zerah, Catherine Caillaud, Jean-marie Saudubray
    Abstract:

    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.