, Volume 36, Issue 2, pp 152–154 | Cite as

GM-2 gangliosidosis (Sandhoff's disease): two year follow-up by MRI

  • W. Koelfen
  • M. Freund
  • W. Jaschke
  • S. Koenig
  • C. Schultze
Paediatric Neuroradiology


Two children with GM-2 gangliosidosis type 0 (Sandhoff's disease) followed up by MRI at 1.5 Tesla for 1.8 years are reported. One was presymptomatic at the first MRI examination. As her neurological status deteriorated, MRI showed low signal in bilaterally, on T2-weighted images the white matter with involvement of the optic radiations. In the second, MRI correlated well with the clinical progression of the disease, showing in the different stages involvement of thalamus and basal ganglia. There was no contrast enhancement and the grey matter remained normal.

Key words

GM-2 gangliodoses-Sandhoff's disease MRI 


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  1. 1.
    Swainmann KF (1989) Pediatric neurology; principles and practice, vol II. Mosby, St Louis, p 1022Google Scholar
  2. 2.
    Sandhoff K, Conzelmann E (1984) The biochemical basis of gangliosidoses. Neuropediatrics 15 (Suppl): 85–92Google Scholar
  3. 3.
    Brett EM, Ellis RB, Haas L (1973) Late-onset gangliosidosis. Clinical, pathological and biochemical studies on 8 patients. Arch Dis Child 48: 775–785Google Scholar
  4. 4.
    Schwab ME, Vassella F (1984) Synopsis: gangliosidoses. Neuropediatrics 15: 107–109Google Scholar
  5. 5.
    Schulte FJ (1984) Clinical course of GM2 gangliosidoses. A correlative attempt. Neuropediatrics 15 (Suppl): 66–70Google Scholar
  6. 6.
    van der Knapp MS, Valk J, de Neeling N, Nauta JJP (1991) Pattern recognition in magnetic resonance imaging of white matter disorders in children and young adults. Neuroradiology 33: 478–493Google Scholar
  7. 7.
    Barnes DM, Enzmann DR (1981) Theevolution of white matter disease as seen on computed tomography. Radiology 138: 379–383Google Scholar
  8. 8.
    Ludwig B, Kishikawa T, Wende S (1983) CT in disorders of complex carbohydrate and related storage disorders. AJNR 4: 431–433Google Scholar
  9. 9.
    Kingsley D, Kendall B (1983) Demyelinating and neurodegenerative diseases of childhood. CT appearances and their differential diagnosis. J Neuroradiol 8: 243–245Google Scholar
  10. 10.
    Sommer B, Spohr HL (1991) GM2-Gangliosidose, Variante O (M. Sandhoff): Verdachtsdiagnose einer Speicherkrankheit durch Ultraschall. Monatsschr Kinderheilkd 139: 160–162Google Scholar
  11. 11.
    Kendall BE, Kingsley D (1978) The value of computerized axial tomography (CAT) in craniocerebral malformations. Br J Radiol 51: 171–190Google Scholar
  12. 12.
    Watanabe K, Mukawa A, Muto K (1985) Tay-Sachs disease with conspicious cranial computerized tomographic appearances. Acta Pathol Jpn 35: 1521–1532Google Scholar
  13. 13.
    Brismar J, Brismar G, Coates R, Gascon G, Ozand P (1990) Increased density of the thalamus on CT scans in patients with GM2 gangliosidoses. AJNR 11: 125–130Google Scholar
  14. 14.
    Uchiyama M, Hata Y, Tada S (1991) MR imaging of adrenoleukodystrophy. Neuroradiology 33: 25–29Google Scholar
  15. 15.
    Yoshikawa H, Yamada K, Sakunagawa N (1992) MRI in the early stage of Jay-Sachs disease. Neuroradiology 34: 394–395Google Scholar
  16. 16.
    Kendall BE (1992) Disorders of lysosomes, peroxisomes, and mitochondria. AJNR 13: 621–653Google Scholar
  17. 17.
    Barkovich AJ, Lyon G, Evrard P (1992) Formation, maturation, and disorders of white matter. AJNR 13: 447–461Google Scholar
  18. 18.
    Hatten HP Jr (1991) Dysmyelinating leukodystrophies: “lack prober myelin”. Pediatric Radiol 21: 477–482Google Scholar
  19. 19.
    Becker LE (1992) Lysosomes, peroxisomes and mitochondria: function and disorder. AJNR 13: 609–620Google Scholar
  20. 20.
    Valk J, van der Knaap MS (1989) Magnetic resonance of myelin, myelination, and myelin disorders. Springer, Berlin Heidelberg New York, pp 85–94Google Scholar

Copyright information

© Springer-Verlag 1994

Authors and Affiliations

  • W. Koelfen
    • 1
  • M. Freund
    • 2
  • W. Jaschke
    • 2
  • S. Koenig
    • 1
  • C. Schultze
    • 1
  1. 1.Theodor-Kutzer-UferUniversitätskinderklinikMannheimGermany
  2. 2.Radiologische KlinikMannheimGermany

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