Neuroimaging findings in infantile GM1 gangliosidosis

Eur J Paediatr Neurol. Sep-Nov 2006;10(5-6):245-8. doi: 10.1016/j.ejpn.2006.08.005. Epub 2006 Oct 17.


GM1 gangliosidosis is an autosomal recessive glycosphingolipid storage disease caused by defects in the enzyme beta-galactosidase. Three clinical forms (infantile-, juvenile-, and adult-onset) of the disease are recognized. Patients with infantile GM1 gangliosidosis present at birth or shortly thereafter with somatic and bony changes, followed by severe neurological deterioration ultimately leading to death within the first 2 years of life. We present the brain CT, MRI and MR spectroscopy (MRS) findings in a 17-month-old Turkish girl with infantile GM1 gangliosidosis. Neuroimaging findings in patients with infantile GM1 gangliosidosis have been reported only in a few cases. In this study, MRS of the thalamus was performed to study the metabolic changes in GM1 gangliosidosis. We showed a a decreased NAA/Cr ration and an increased Cho/Cr ratio. To our knowledge, this is the first report of magnetic resonance spectroscopy findings in type-1 GM1 gangliosidosis.

Publication types

  • Case Reports

MeSH terms

  • Aspartic Acid / analogs & derivatives
  • Aspartic Acid / metabolism
  • Brain / metabolism
  • Brain / pathology*
  • Choline / metabolism
  • Female
  • Gangliosidosis, GM1 / diagnosis*
  • Gangliosidosis, GM1 / metabolism
  • Humans
  • Infant
  • Magnetic Resonance Imaging / methods
  • Magnetic Resonance Spectroscopy / methods
  • Tomography, X-Ray Computed / methods


  • Aspartic Acid
  • N-acetylaspartate
  • Choline