Manifestation of infantile GM1 gangliosidosis in the fetal eye

An electron microscopic study
  • A. Schmitt-Gräff
Original Investigations


GM1 gangliosidosis in the infantile form is a rapidly fatal storage disease produced by deficiency of acid β-galactosidase. Ultrastructural studies of the eyes from two fetuses affected with GM1 gangliosidosis were performed in an effort to assess tissue-specific distribution of storage inclusions in the different ocular components derived from neuroectoderm, surface ectoderm, and mesoderm. Two major configurations of inclusions were observed: electron-lucent vacuoles and pleiomorphic osmiophilic membranes. Although the latter changes mainly affected the retinal neurons, they were occasionally found in cells of epithelial and mesenchymal origin. The findings indicate that the lysosomal storage process in GM1 gangliosidosis, type 1, has a wide morphologic spectrum that is already present in the early period of fetal life.


Fatal Storage Retinal Neuron Storage Process Mesenchymal Origin Infantile Form 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. 1.
    Adachi M, Schneck L, Volk BW (1978) Progress in investigation of sphingolipidoses. Acta Neuropathol (Berl) 43: 1–18Google Scholar
  2. 2.
    Derry DM, Fawcett JS, Andermann F, Wolfe LS (1968) Late infantile systemic lipidosis. Major monosialogangliosidosis delineation of two types. Neurology 18: 340–348PubMedGoogle Scholar
  3. 3.
    Goebel HH (1984) Morphology of the gangliosidoses. Neuropediatrics [Suppl] 15: 97–106PubMedGoogle Scholar
  4. 4.
    Goebel HH, Fix JD, Zeman W (1973) Retinal pathology in GM1 gangliosidosis type II. Am J Ophthalmol 75: 434–441PubMedGoogle Scholar
  5. 5.
    Harzer K, Zahn V, Stengel-Rutkowsky S, Gley E-O (1975) Pränatale Diagnose der metachromatischen Leukodystrophie. Dtsch Med Wochenschr 100: 951–953PubMedGoogle Scholar
  6. 6.
    Johnston MC (1966) A radioautographic study of the migration and fate of cranial neural crest cells in the chick embryo. Anat Rec 156: 143–156PubMedGoogle Scholar
  7. 7.
    Johnston MC, Noden DM, Hazelton RD, Coulombre JL, Coulombre AJ (1979) Origins of avian ocular and periocular tissues. Exp Eye Res 29: 27–43PubMedGoogle Scholar
  8. 8.
    Kaback MM, Sloan HR, Sonneborn M, Herndorn RM, Percy AK (1973) GM1 gangliosidosis type I: in utero detection and fetal manifestations. J Pediatr 82: 1037–1041PubMedGoogle Scholar
  9. 9.
    Klenk E (1942) Über die Gangliosidose des Gehirns bei infantiler amaurotischer Idiotie vom Typ Tay-Sachs. Ber Dtsch Chem Ges 75: 1632–1636Google Scholar
  10. 10.
    Landing BH, Silverman FN, Craig JM, Jacoby MD, Labey ME, Chadwig DL (1964) Familial neurovisceral lipidosis. Am J Dis Child 108: 503–512PubMedGoogle Scholar
  11. 11.
    Lowden JA, Cutz E, Conen PE, Rudd N, Dora TA (1973) Prenatal diagnosis of GM1 gangliosidosis. N Engl J Med 288: 225–228PubMedGoogle Scholar
  12. 12.
    Norman RM, Urich H, Tingey AH, Goodbody RA (1959) Tay-Sachs disease with visceral involvement and its relationship to Nieman-Pick disease. J Pathol Bacteriol 78: 409–421PubMedGoogle Scholar
  13. 13.
    O'Brien JS (1983) The gangliosidoses. In: Stanbury JB, Wyngaarden JB, Fredrickson DS, Goldstein JL, Brown MS (eds) The metabolic basis of inherited disease, 5th edn. McGraw-Hill, New York, pp 954–968Google Scholar
  14. 14.
    Rahman H, Probst W, Mühleisen M (1982) Gangliosidoses and synaptic transmission. Jpn J Exp Med 52: 275–286PubMedGoogle Scholar
  15. 15.
    Spycher MA (1980) Electron microscopy: a method for the diagnosis of inherited metabolic storage diseases. Pathol Res Pract 167: 118–135PubMedGoogle Scholar
  16. 16.
    Terry RD (1971) Some morphologic aspects of lipidoses. In: Bernsohn J, Grossman HJ (eds) Lipid storage diseases. Academic Press, New York, pp 3–20Google Scholar
  17. 17.
    Terry RD, Weiss M (1963) Studies on Tay-Sachs disease. II. Ultrastructure of the cerebrum. J Neuropathol Exp Neurol 22: 18–55PubMedGoogle Scholar
  18. 18.
    Torczynski E, Jacobiec FA, Johnston MC, Font RL, Madewell JA (1977) Synophthalmia and cyclopia: a histopathologic, radiographic, and organogenetic analysis. Doc Ophthalmol 44: 311–378PubMedGoogle Scholar
  19. 19.
    Wenger DA, Sattler M, Mueller OT, Myers GO, Schneiman RS, Nixon GW (1980) Adult GM1 gangliosidosis: clinical and biochemical studies on two patients and comparison to other patients called variant or adult GM1 gangliosidosis. Clin Genet 17: 323–334PubMedGoogle Scholar
  20. 20.
    Yamano T, Shimada M, Okada S, Yutaka T, Kato T, Inui K, Yabuuchi H, Kanzaki S, Kanda S (1983) Ultrastructural study of nervous system of two fetuses with GM1 gangliosidosis type 1. Acta Neuropathol (Berl) 61: 15–20Google Scholar

Copyright information

© Springer-Verlag, Berlin Heidelberg 1988

Authors and Affiliations

  • A. Schmitt-Gräff
    • 1
  1. 1.Abteilung für PathologieUniversität DüsseldorfDüsseldorf 1Federal Republic of Germany

Personalised recommendations