title: Proton MR spectroscopy in three children with Tay-Sachs disease.
abstract: BACKGROUND
  Tay-Sachs disease is an inherited metabolic disease caused by the accumulation of GM(2) gangliosides in the central nervous system. Deficiency of hexosaminidase A leads to the accumulation of gangliosides in neurons, axons and glial cells.
  
  
  OBJECTIVE
  To present the cranial MRI and proton MR spectroscopy findings of children of Tay-Sachs disease.
  
  
  METHODS
  Three children aged 10, 20 and 21 months were examined.
  
  
  RESULTS
  On T2-weighted MR images there were hyperintense signal changes in the basal ganglia and cerebral white matter. MR spectroscopy demonstrated an increase in myoinositol/creatine and choline/creatine ratios with a decrease in the N-acetyl aspartate/creatine ratio.
  
  
  CONCLUSIONS
  The spectroscopy findings support demyelination, gliosis and neuronal loss in the neuropathological process of Tay-Sachs disease.
authors.affiliation: Neuroradiology Division, Department of Radiology, Istanbul Medical School, Istanbul University, Istanbul, Turkey. dr.aydink@superonline.com
authors.forename: Kubilay
authors.initials: K
authors.lastname: Aydin
authors.forename: Baris
authors.initials: B
authors.lastname: Bakir
authors.forename: Burak
authors.initials: B
authors.lastname: Tatli
authors.forename: Ege
authors.initials: E
authors.lastname: Terzibasioglu
authors.forename: Meral
authors.initials: M
authors.lastname: Ozmen
mesh_terms: D001921:Brain / Q000378:metabolism* / Q000473:pathology*; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging / Q000379:methods*; D009682:Magnetic Resonance Spectroscopy / Q000379:methods*; D008297:Male; D018377:Neurotransmitter Agents / Q000378:metabolism*; D011522:Protons; D013661:Tay-Sachs Disease / Q000175:diagnosis* / Q000378:metabolism*
chemical_list: D018377:Neurotransmitter Agents; D011522:Protons