Unusual presentation of GM2 gangliosidosis mimicking a brain stem tumor in a 3-year-old girl.
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.
Service de Maladies Métaboliques, Neurologie et Génétique, Hôpital Cochin, Paris, France.
Marie-Cécile
MC
Nassogne
Marie-Christine
MC
Commare
Arielle
A
Lellouch-Tubiana
Sophie
S
Emond
Michel
M
Zerah
Catherine
C
Caillaud
Lucie
L
Hertz-Pannier
Jean-Marie
JM
Saudubray
D001707:Biopsy, Needle; D001933:Brain Stem / Q000473:pathology; D020295:Brain Stem Neoplasms / Q000175:diagnosis*; D002531:Cerebellum / Q000473:pathology; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D020233:Gait Disorders, Neurologic / Q000209:etiology; D020143:Gangliosidoses, GM2 / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D008279:Magnetic Resonance Imaging