Unusual presentation of GM2 gangliosidosis mimicking a brain stem tumor in a 3-year-old girl.
, Commare MC
, Lellouch-Tubiana A
, Emond S
, Zerah M
, Caillaud C
, Hertz-Pannier L
, Saudubray JM
Service de Maladies Métaboliques, Neurologie et Génétique, Hôpital Cochin, Paris, France.
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.
PMID: 12748082 [PubMed - indexed for MEDLINE]