Summary
A girl aged 8 years and 10 months at death had shown signs of a slowly progressive neurological disease with onset in early infancy. The main clinical features were nystagmus, spastic paraplegia, and mental deterioration. Pathological examination of the brain showed severe demyelination with perivascular preservation of myelin islands, presenting a tigroid pattern. The patient is the second case of classical Pelizaeus-Merzbacher's disease in Japan proven by autopsy.
This is a preview of subscription content, log in via an institution to check access.
References
Diezel, P. B., Fritsch, H., Jakob, H.: Leukodystrophie mit orthochromatischen Abbaustoffen. Ein Beitrag zur Pelizaeus-Merzbacherschen Krankheit. Virchows Arch. path. Anat.338, 371–394 (1965)
Förster, C., Daschner, F., Murken, J.-D.: Pelizaeus-Merzbacher-Krankheit: Zur Frage der klinischen Diagnose. Kinderheilk.110, 248–260 (1971)
Fujisawa, K., Yamamoto, T., Shiraki, H., Abe, H.: Pelizaeus-Merzbacher's disease-Report of a sporadic case. Advanc. Neurol. Sci. (Tokyo)14, 367–378 (1970)
Gerstl, B., Malamud, N., Hayman, R. B., Bond, P. R.: Morphological and neurochemical study of Pelizaeus-Merzbacher disease. J. Neurol. Neurosurg. Psychiat.28, 540–547 (1965)
Jellinger, K., Seitelberger, F.: Pelizaeus-Merzbacher disease. Transitional form between classical and connatal (Seitelberger) type. Acta neuropath. (Berl.)14, 108–117 (1969)
Löwenberg, K., Hill, T. S.: Diffuse sclerosis with preserved myelin islands. Arch. Neurol. Psychiat. (Chic.)29, 1232–1245 (1933)
Merzbacher, L.: Eine eigenartige familiäre Erkrankungsform (Aplasia axialis extracorticalis congenita). Z. ges. Neurol. Psychiat.3, 1–138 (1910)
Norman, R. M., Tingey, A. H., Harvey, P. W., Gregory, A. M.: Pelizaeus-Merzbacher disease: a form of sudanophile leucodystrophy. J. Neurol. Neurosurg. Psychiat.29, 521–529 (1966)
Seitelberger, F.: Die Pelizaeus-Merzbachersche Krankheit. Klinisch-anatomische Untersuchungen zum Problem ihrer Stellung unter den diffusen Sklerosen. Wien. Z. Nervenheilk.9, 228–289 (1954)
Seitelberger, F.: Pelizaeus-Merzbacher disease. In: P. J. Vinken and G. W. Bruyn: Handbook of clinical neurology, Vol. 10, Leucodystrophies and poliodystrophies, pp. 150–202. Amsterdam: North-Holland Publ. Co. 1970
Watanabe, I., Patel, V., Goebel, H. H., Siakotos, A. N., Zeman, W., De Myer, W., Dyer, J. S.: Early lesion of Pelizaeus-Merzbacher disease: Electron microscopic and biochemical study. J. Neuropath. exp. Neurol.32, 313–333 (1973)
Yokoi, S.: Histopathological and histochemical aspects of leucodystrophy in the Japanese. In: J. Folch-Pi and H. Bauer: Brain lipids and lipoproteins, and the leucodystrophies, pp. 153–160. Amsterdam: Elsevier 1963
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Konishi, Y., Kamoshita, S. An autopsy case of classical Pelizaeus-Merzbacher's disease. Acta Neuropathol 31, 267–270 (1975). https://doi.org/10.1007/BF00684566
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF00684566