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Late onset GM2 gangliosidosis mimicking spinal muscular atrophy |
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| Authors: | Z Jamrozik A Ługowska M Gołębiowski L Królicki J Mączewska M Kuźma-Kozakiewicz |
| Institution: | 1. Department of Neurology, Medical University of Warsaw, Poland;2. Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland;3. Department of Radiology, Medical University of Warsaw, Poland;4. Department of Nuclear Medicine, Medical University of Warsaw, Poland |
| Abstract: | A case of late onset GM2 gangliosidodis with spinal muscular atrophy phenotype followed by cerebellar and extrapyramidal symptoms is presented. Genetic analysis revealed compound heterozygous mutation in exon 10 of the HEXA gene. Patient has normal intelligence and emotional reactivity. Neuroimaging tests of the brain showed only cerebellar atrophy consistent with MR spectroscopy (MRS) abnormalities. (18)F-fluorodeoxyglucose positron emission tomography (18)F-FDG PET/CT of the brain revealed glucose hypometabolism in cerebellum and in temporal and occipital lobes bilaterally. |
| Keywords: | MRI magnetic resonance imaging MRS magnetic resonance spectroscopy MRS (SVS) magnetic resonance spectroscopy single voxel (18)F-FDG PET CT (18)F-fluorodeoxyglucose positron emission tomography FDG-PET fluorodeoxyglucose positron emission tomography GM2G GM2 gangliosidoses GM2-B GM2 gangliosidosis type B GM2-0 GM2 gangliosidosis type 0 LOGM2 late-onset or chronic GM2 gangliosidoses Hex A hexosaminidase A Hex B hexosaminidase B mI/Cr myo-inositol/creatine NAA/Cr ratio of the N-acetylaspartate/creatine SMA spinal muscular atrophy TSD Tay&ndash Sachs disease TE time echo MLPA multiplex ligation-dependent probe amplification ALS amyotrophic lateral sclerosis MND motor neuron disease TSE time spin echo |
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