Serial 1H-MRS in GM2 gangliosidoses

GM2 gangliosidoses are a group of neuronal storage disorders caused by deficiency in the lysosomal enzyme hexosaminidase A. Clinically, the disease is marked by a relentless encephalopathy. Proton magnetic resonance spectroscopy (1H-MRS) provides in-vivo measurement of various brain metabolites incl...

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Bibliographic Details
Published in:European journal of pediatrics 2008-03, Vol.167 (3), p.347-352
Main Authors: Assadi, Mitra, Baseman, Susan, Janson, Christopher, Wang, Dah-Jyuu, Bilaniuk, Larissa, Leone, Paola
Format: Article
Language:English
Subjects:
Biological and medical sciences
Consanguinity
Errors of metabolism
Gangliosidoses, GM2 - metabolism
Gangliosidoses, GM2 - pathology
General aspects
Humans
Infant
Lipids (lysosomal enzyme disorders, storage diseases)
Magnetic Resonance Imaging
Magnetic Resonance Spectroscopy - methods
Male
Medical sciences
Medicine
Medicine & Public Health
Metabolic diseases
Pediatrics
Short Report
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Summary:GM2 gangliosidoses are a group of neuronal storage disorders caused by deficiency in the lysosomal enzyme hexosaminidase A. Clinically, the disease is marked by a relentless encephalopathy. Proton magnetic resonance spectroscopy (1H-MRS) provides in-vivo measurement of various brain metabolites including N-acetyl aspartate+N-acetyl aspartate glutamate (NAA), myo-inositol (mI), choline (Cho) and creatine (Cr). The NAA represents neuronal integrity while elevation in the mI reflects abnormal inflammation and gliosis in the brain tissue. An elevation in the Cho levels suggest cell membrane breakdown and demyelination. We report the clinical and laboratory data in two patients with GM2 gangliosidoses. Serial 1H-MRS evaluations were performed to drive metabolite ratios of NAA/Cr, mI/Cr and Cho/Cr. We acquired the data from four regions of interest (ROI) according to a standard protocol. The results documented a progressive elevation in mI/Cr in all four ROI in patient one and only one ROI (occipital gray matter) in patient 2. We also documented a decline in the NAA/Cr ratios in both cases in most ROI. These results were compared to six age-matched controls and confirmed statistically significant elevation in the mI in our cases. In conclusion, 1H-MRS alterations were suggestive of neuronal loss and inflammation in these patients. 1H-MRS may be a valuable tool in monitoring the disease progress and response to therapy in GM2 gangliosidoses. Elevation in the mI may prove to be more sensitive than the other metabolite alterations.
ISSN:0340-6199
1432-1076
DOI:10.1007/s00431-007-0469-0