Summary
A case of Seitelberger's connatal form of Pelizaeus-Merzbacher disease is reported. He lived to the age of 13 and was able to recognize persons. Both is unusual in this disease.
Some of the few myelin sheaths had two different periodicities (150 and 90 Å). Intranuclear inclusions similar to Hirano's cytoplasmic eosinophilic rodlets were observed. The findings of connatal form of Pelizaeus-Merzbacher disease are compared with those of dysmyelinating mice (Jimpy and Quaking) and of manipulated myelinating tissue cultures. The possibility is considered, that the alterations in these dysmyelinating human and animal conditions are caused by extraneural circulating factors.
Similar content being viewed by others
References
Adachi, M., Schneck, L., Torii, J., Volk, B. W.: Histochemical, ultrastructural and biochemical studies of a case with leukodystrophy due to congenital deficiency of myelin. J. Neuropath. exper. Neurol.29, 601–614 (1970)
Austin, J. H., Balasubramanian, A. G., Pattabiraman, T. N., et al.: A controlled study of enzymic activities in three human disorders of glycolipid metabolism. J. Neurochem.10, 805–816 (1963)
Bargeton-Farkas, L., Edgar, G. W. F.: Anatomo-chemical studies on a case of congenital sudanophilic leucodystrophy. Acta neuropath.3, 578–587 (1964)
Bornstein, M. B., Raine, C.: The initial structural lesion in seruminduced demyelination in vitro. Lab. Invest.35, 391–401 (1976a)
Bornstein, M. B., Raine, C.: Central nervous system. In textbook of immunopathology, 2nd ed. Peter A. Miescher, Hans-J. Müller, eds. pp. 701–714. New York, San Francisco, London: Grune & Stratton 1976b
Diezel, P. B., Fritsch, H., Jakob, H.: Leukodystrophie mit orthochromatischen Abbaustoffen. Ein Beitrag zur Pelizaeus-Merzbacher'schen Krankheit. Virchows Archiv für Path. Anat.338, 371–394 (1965)
Farkas-Bargeton, E., Robain, O., Mandel, P.: Abnormal glial maturation in the white matter in Jimpy mice. Acta neuropath.21, 272–281 (1972)
Friede, R. L.: Developmental neuropathology, pp. 449–456 Wien und New York: Springer 1975
Ghatak, N. R., Hirano, A., Lijtmaer, H., Zimmerman, H. M.: Asymptomatic demyelinated plaque in spinal cord. Arch. Neurol.30, 484–486 (1974)
Herschkowitz, N., McKhan, G. M., Schooter, E. M.: Studies of water soluble lipoproteins in the rat brain. J. Neurochem.15, 161–168 (1968)
Hirano, A., Sax, D. S., Zimmerman, H. M.: The fine structure of the cerebella of Jimpy mice and their “normal” litter mates. J. Neuropath. exp. Neurol.28, 388–400 (1969)
Hirano, A.: Progress in the pathology of motor neuron diseases. In: “Progress in neuropathology”. H. M. Zimmerman, Ed. pp. 181–215. New York: Grune and Stratton 1973
Keen, C. L., Hurley, L. S.: Copper supplementation in Quaking mutant mice: Reduced tremors and increased brain copper. Science193, 244–246 (1976)
Martenson, R. E., Daibler, G. E., Kies, M. W.: Myelin basic protein of the rat central nervous system. Biochem. Biophys. Acta (Aust)200, 353–362 (1970)
Meier, C., Bischoff, A.: Dysmyelination in the Jimpy mouse. Electron microscopic study. J. Neuropath. exp. Neurol.33, 343–353 (1974)
Meier, C., Herschkowitz, N., Bischoff, A.: Morphological and biochemical observations in the Jimpy spinal cord. Acta neuropath. (Berl.)27, 349–362 (1974)
Merzbacher, L.: Eine eigenartige familiär-hereditäre Erkrankungsform (Aplasia axialis corticalis congenita). Z. ges. Neurol. Psychiat.3, 1 (1910)
Nisenbaum, C., Sandbank, U., Kohn, R.: Pelizaeus-Merzbacher disease “infantile acute type”. Report of a family. Ann. paediat.204, 365–376 (1965)
Norman, R. M., Tingey, A. H.: Sudanophil leucodystrophy and Pelizaeus-Merzbacher disease. In: Folch-Pi and H. Bauer, eds.: Brain lipids and lipoproteins and the leucodystrophies, pp. 169–186. Amsterdam. Elsevier 1963
Peiffer, J., Zerbin-Rüdin, E.: Zur Variationsbreite der Pelizaeus-Merzbacher'schen Krankheit (Zugleich ein Beitrag zur familiären multiplen Sklerose). Acta Neuropath.3, 87–107 (1963)
Pelizaeus, F.: Über eine eigenartige familiäre Entwicklungshemmung, vornehmlich auf motorischem Gebiet. Arch. f. Psych.31, 100–104 (1899)
Privat, A., Robain, O., Mandel, P.: Aspects ultrastructuraux du corps calleux chez le souris Jimpy. Acta Neuropath.21, 282–295 (1972)
Robain, O., Mandel, P.: Etude quantitative de la myélinisation et de la croissance axonale dans le corps calleux et le cordon postérieur de la moelle de la souris Jimpy. Acta Neuropath.29, 293–309 (1974)
Samorajski, T., Friede, R. L., Reimer, P. R.: Hypomyelination in the quacking mouse. A model for the analysis of disturbed myelin formation. J. Neuropath. exp. Neurol.29, 507–523 (1970)
Schneck, L., Adachi, M., Volk, B. W.: Congenital failure of myelinization: Pelizaeus-Merzbacher disease? Neurology21, 817–824 (1971)
Seitelberger, F.: Die Pelizaeus-Merzbacher'sche Krankheit. Klinische und anatomische Untersuchungen zum Problem ihrer Stellung unter den diffusen Sklerosen. Wien Z. Nhk.9, 128–289 (1954)
Seitelberger, F.: Contribution to Pelizaeus-Merzbacher's disease. In: Brain lipids and lipoproteins. J. Folch-Pi and H. Bauer, eds., pp. 187–198. Amsterdam, London, New York: Elsevier 1963
Seitelberger, F.: Pelizaeus-Merzbacher disease. In: Handbook of clinical neurology (Vinken, P. J., Bruyin, G. W., eds.), Vol. 10, Chp. 10, pp. 150–202. Amsterdam: North Holland 1970
Sidman, R. L., Dichie, M. M., Appel, S. H.: Mutant mice (Quaking and Jimpy) with deficient myelination in the central nervous system. Science144, 309–311 (1964)
Sidman, R. L.: Pathogenesis of an inherited sudanophilic leucodystrophy in mice. In: Vth Internat. Congress of Neuropathology. Proceedings, p. 177. Amsterdam: Excerpta Medica 1965
Suzuki, K., Suzuki, Y.: Globoid cell leucodystrophy (Krabbe's disease): Deficiency of galactose cerebroside β-galactosidase. Proc. nat. Acad. Sci.66, 302–309 (1970)
Suzuki, K., Zagoren, J. C.: Focal axonal swelling in cerebellum of of Quaking mouse: Light and electron microscopic studies. Brain Res.85, 38–43 (1975)
Ulrich, J., Bornstein, M. B.: Experimental allergic encephalomyelitis (EAE): Delayed myelination-inhibition in vitro with EAE-serum: Changes in vulnerability of oligodendroglia and newly formed myelin sheaths. Acta neuropath.25, 138–148 (1973)
Watanabe, J., McComan, R., Dyken, P., Zeman, W.: Absence of cerebral myelin sheaths in a case of presumed Pelizaeus-Merzbacher disease. Electron microscopic and biochemical studies. J. Neuropath. and exp. Neurol.28, 243–256 (1969)
Watanabe, J., Bingle, F. J.: Dysmyelination in Quaking mouse: Electron microscopic study. J. Neuropath. and exp. Neurol.31, 352–369 (1972)
Wisniewski, H., Morell, P.: Quaking mouse: Ultrastructural evidence for arrest of myelinogenesis. Brain Res.29, 63–73 (1971)
Zeman, W., Demyer, W., Falls, H. F.: Pelizaeus-Merzbacher disease. J. Neuropath. exp. Neurol.23, 334–354 (1964)
Author information
Authors and Affiliations
Additional information
Diese Arbeit wurde unterstützt durch den Schweizerischen Nationalfonds Nr. 3'660-0.75
Rights and permissions
About this article
Cite this article
Ulrich, J., Herschkowitz, N. Seitelberger's connatal form of Pelizaeus-Merzbacher disease. Acta Neuropathol 40, 129–136 (1977). https://doi.org/10.1007/BF00688701
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF00688701