Skip to main content
Log in

Fetal Krabbe leukodystrophy

A morphologic study of two cases

  • Original Works
  • Published:
Acta Neuropathologica Aims and scope Submit manuscript

Summary

Two new cases of Krabbe disease were diagnosed prenatally in a family with two previous affected children. The activity of galactosylceramide-β-galactosidase was virtually absent in cultured amniotic cells.

The prenatal diagnosis was confirmed enzymatically in cultured fibroblasts, brain, and visceral organs.

Light and electron microscopy studies in both fetuses, 20 and 23 weeks of gestational age respectively, revealed the presence of typical globoid cells in the white matter of the spinal cord. Specific inclusions were also found in the brain stem and in peripheral nerves of the second fetus.

A comparison with other Krabbe disease fetuses described in the literature contributes to the consensus that abnormal morphological findings can be expected in particular in the most actively myelinating areas of the nervous system.

Although most of the cells containing the specific melusions are probably non-glial in nature, some of them could represent myelination glia.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  • Anzil AP, Blinzinger K, Mehraein P, Dorn G, Neuhäuser G (1972) Cytoplasmic inclusions in a child affected with Krabbe's disease (globoid leucodystrophy) and in the rabbit injected with galactocerebrosides. J Neuropathol Exp Neurol 31:370–388

    Google Scholar 

  • Dunn HG, Dolman CL, Farrell DF, Tischler B, Hasinoff C, Woolf LD (1976) Krabbe's leukodystrophy without globoid cells. Neurology (Minneap) 26:1035–1041

    Google Scholar 

  • Ellis WG, Schneider EL, McCulloch JR, Suzuki K, Epstein CJ (1973) Fetal globoid cell leukodystrophy (Krabbe disease). Pathological and biochemical examination. Arch Neurol 29:253–257

    Google Scholar 

  • Earretl DF, Sumi SM, Scott CR, Rice G (1978) Antenatal diagnosis of Krabbe's leucodystrophy. Enzymatic and morphological confirmation in an affected fetus. J Neurol Neurosurg Psychiatry 41:76–82

    Google Scholar 

  • Harzer K (1977) Prenatal diagnosis of globoid cell leukodystrophy (Krabbe's disease). Third documented case. Hum Genet 35:193–196

    Google Scholar 

  • Harzer K, Benz HU, Knört-Gärtner H, Jonatha WD, Knörr K (1976) Pränatale Diagnose der Globoidzell-Leukodystrophie (Morbus Krabbe). Dtsch Med Wochenschr 101:821–824

    Google Scholar 

  • Leroy JG, DeMars RI (1967) Mutant enzymatic and cytological phenotypes in cultured human fibroblasts. Science 157:804–806

    Google Scholar 

  • Leroy JG, Ho MW, MacBrinn MC, Ziele K, Jacob J, O'Brien JS (1972) I-cell disease. Biochemical studies. Pediatr Res 6:752–757

    Google Scholar 

  • Martin JJ, Ceuterick C, Libert J (1979) Malattie metaboliche ereditarie del sistema nervose centrale del bambino. Approccio morfologico alla diagnosi. Prospettive Pediatria 36:449–467

    Google Scholar 

  • Martin JJ, Ceuterick C, Martin L, Leroy JG, Nuyts JP, Joris C (1974) Leucodystrophie à cellules globoïdes (maladie de Krabbe). Lésions nerveuses périphériques. Acta Neurol Belg 74:356–375

    Google Scholar 

  • Meier C (1976) Some observations on early myelination in the human cord. Light and electron microscope study. Brain res 104:21–32

    Google Scholar 

  • Milunsky A (1973) The prenatal diagnosis of hereditary disorders. Thomas, Springfield

    Google Scholar 

  • Niebrój-Dobosz I, Fidziańska A, Rafaŀowska J, Sawicka E (1980) Correlative biochemical and morphological studies of myelination in human ontogenesis. 1. Myelination of the spinal cord. Acta Neuropathol (Berl) 49:145–152

    Google Scholar 

  • Okeda R, Suzuki Y, Horiguchi S, Fujii T (1979) Fetal globoid cell leukodystrophy in one of twins. Acta Neuropathol (Berl) 47:151–154

    Google Scholar 

  • Petersen EM, Nelson MM, Thomson AJ, Coetzee EJ, Besley GTN, Brain AD (1978) Krabbe's disease in an infant and her fetal sibling. A case report. S Afr Med J 54:168–170

    Google Scholar 

  • Wenger DA, Riccardi VM (1976) Possible misdiagnosis of Krabbe disease. J Pediatr 88:76–79

    Google Scholar 

  • Wenger DA, Satler M, Markey JP (1973) Deficiency of monogalactosyl diglyceride beta-galactosidase activity in Krabbe's disease. Biochem Biophys Res Commun 53:680–685

    Google Scholar 

  • Yajima K, Fletcher TF, Suzuki K (1977a) Canine globoid cell leukodystrophy. 1. Further ultrastructural study of the typical lesion. J Neurol Sci 33:179–197

    Google Scholar 

  • Yajima K, Fletcher TF, Suzuki K (1977b) Sub-plasmalemmal linear density. A common structure in globoid cells and mesenchymal cells. Acta Neuropathol (Berl) 39:195–200

    Google Scholar 

  • Yakovlev PI, Lecours AR (1967) The myelogenetic cycles of regional maturation of the brain. In: Minkowski A (ed) Regional development of the brain in early life. Davis, Philadelphia, pp 3–65

    Google Scholar 

  • Ynis EJ, Lee RE (1969) The ultrastructure of globoid (Krabbe) leukodystrophy. Lab Invest 21:415–419

    Google Scholar 

  • Yunis EJ, Lee RE (1976) The morphologic similarities of human and canine globoid leukodystrophy. Thin-section and freeze-fracture studies. Am J Pathol 85:99–114

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Additional information

This work was supported by the FGWO (grants nos. 3.0033.77 and 3.0012.77), by the FRSM (grant no. 3.4542.79), and by the Baron Charles Bracht Foundation

Rights and permissions

Reprints and permissions

About this article

Cite this article

Martin, J.J., Leroy, J.G., Ceuterick, C. et al. Fetal Krabbe leukodystrophy. Acta Neuropathol 53, 87–91 (1981). https://doi.org/10.1007/BF00689987

Download citation

  • Received:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00689987

Key words

Navigation