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Literature DB >> 12748082

Unusual presentation of GM2 gangliosidosis mimicking a brain stem tumor in a 3-year-old girl.

Marie-Cécile Nassogne¹, Marie-Christine Commare, Arielle Lellouch-Tubiana, Sophie Emond, Michel Zerah, Catherine Caillaud, Lucie Hertz-Pannier, Jean-Marie Saudubray.

Abstract

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.

Entities: Disease Species

Mesh：

Year: 2003 PMID： 12748082 PMCID： PMC7975813

Source DB: PubMed Journal: AJNR Am J Neuroradiol ISSN： 0195-6108 Impact factor: 3.825

7 in total

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Authors: H H Goebel; G Stolte; B Kustermann-Kuhn; K Harzer
Journal: Pediatr Res Date: 1989-01 Impact factor: 3.756

7 in total

5 in total

5. Two-Year Follow-Up Magnetic Resonance Imaging and Spectroscopy Findings and Cerebrospinal Fluid Analysis of a Dog with Sandhoff's Disease.

Authors: D Ito; C Ishikawa; N D Jeffery; K Ono; M Tsuboi; K Uchida; O Yamato; M Kitagawa
Journal: J Vet Intern Med Date: 2018-02-25 Impact factor: 3.333