Summary
The pathologic findings of a case of congenital metachromatic leukoencephalopathy are described in a newborn infant who died 20 hours after birth. Metachromatic material was found particularly in cerebral white matter. No metachromatic material was demonstrated, however, in central nervous system neurones or in cells of kidneys, lymph nodes and liver where large, vacuolated cells were found, probably because of the easy solubility in formalin of the deposited substance.
Zusammenfassung
Es werden die pathologischen Befunde eines Falles von angeborener metachromatischer Leukoencephalopathie bei einem Neugeborenem, das 20 Std post partum starb, geschildert. Metachromatisches Material war vor allem im Großhirnmark vorhanden, nicht jedoch in Neuronen, in den Nieren, in Lymphknoten und in der Leber, wo sich große vacuolosierte Zellen fanden, vermutlich weil die Speichersubstanz durch Formalin herausgelöst wurde.
This is a preview of subscription content, log in via an institution to check access.
References
Abraham, K., andP. Lampert: Intraneuronal lipid deposits in metachromatic leukodystrophy, Histochemical and topographical observations. Neurology (Minneap.)13, 686–692 (1963).
Austin, J. H.: Metachromatic form of diffuse cerebral sclerosis. I. Diagnosis during life by urine sediment examination. Neurology (Minneap.)7, 415–426 (1957).
Black, J. W., andJ. N. Cumings: Infantile metachromatic leukodystrophy. J. Neurol. Neurosurg. Psychiat.24, 233–239 (1961).
Einarson, L., andA. V. Neel: Contribution to the study of diffuse brain sclerosis with a comprehensive review of the problem in general and a report of two cases. Acta Jutlandica14 (2), 1–131 (1942).
——, andE. Stromgren: On the problem of diffuse brain sclerosis with special reference to the familial forms. Acta Jutlandica16 (1), 1–178 (1944).
Feigin, I.: Diffuse cerebral sclerosis (metachromatic leuko-encephalopathy). Amer. J. Path.30, 715–737 (1954).
Greenfield, J. G.: A form of progressive cerebral sclerosis in infants associated with primary degeneration of the interfascicular oligodendroglia. J. Neurol. Psychopath.13, 289, 302 (1933).
Hagberg, B., P. Sourander, andL. Svennerholm: Sulphatide lipidosis in childhood. Report of a case investigated during life and at autopsy. Amer. J. Dis. Child.104, 644–656 (1962).
Hain, R. F., andG. D. Laveck: Metachromatic leuko-encephalopathy; review with illustrative case report. Pediatrics22, 1064–1073 (1958).
Jervis, G. A.: Infantile metachromatic leukodystrophy (Greenfield's Disease). J. Neuropath. exp. Neurol.19, 323, 341 (1960).
Norman, R. M., H. Urich, andA. H. Tingey: Metachromatic leucoencephalopathy: a form of lipidosis. Brain83, 369–380 (1960).
Pearse, A. G. E.: Histochemistry, theoretical and applied. 2nd ed. London 1960.
van Bogaert, L., andA. Dewulf: Diffuse progressive leukodystrophy in the adult, with production of metachromatic degenerative products (Alzheimer-Baroncini). Arch. Neurol. Psychiat. (Chic.)42, 1083–1097 (1939).
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Bubis, J.J., Adlesberg, L. Congenital metachromatic leukodystrophy. Acta Neuropathol 6, 298–302 (1966). https://doi.org/10.1007/BF00687860
Received:
Published:
Issue Date:
DOI: https://doi.org/10.1007/BF00687860