Proton MR spectroscopy in three children with Tay-Sachs disease

Aydin K., Bakir B., Tatli B., Terzibasioglu E., Ozmen M.

PEDIATRIC RADIOLOGY, cilt.35, sa.11, ss.1081-1085, 2005 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 35 Sayı: 11
  • Basım Tarihi: 2005
  • Doi Numarası: 10.1007/s00247-005-1542-3
  • Dergi Adı: PEDIATRIC RADIOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1081-1085
  • İstanbul Üniversitesi Adresli: Evet

Özet

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. Materials and 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.