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Pigment Variant of Neuronal Ceroid-Lipofuscinosis (Kufs’ Disease)

Published online by Cambridge University Press:  03 July 2018

Dikran S. Horoupian  and
R. T. Ross
Dikran S. Horoupian*
Affiliation:
Departments of Pathology and Medicine, Health Sciences Centre and Faculty of Medicine, University of Manitoba, Winnipeg, Canada
R. T. Ross
Affiliation:
Departments of Pathology and Medicine, Health Sciences Centre and Faculty of Medicine, University of Manitoba, Winnipeg, Canada
*
Dept. of Pathology, Rose F. Kennedy Center, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, N.Y. 10461.
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Summary

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A case of pigment variant of Kufs’ disease is presented. The nature of the extra-neuronal pigment is discussed. Despite some of the histochemical discrepancies that existed between this pigment and the material that had accumulated in the nerve cells, they seemed to he ultrastructurally related. The hepatocytes contained numerous heterogeneous cytosomes, some of which resembled the storage material of Niemann-Pick’s disease.

Clinically the syndrome may present with progressive ataxia, spontaneous and reflex, coarse myoclonic jerks and eventual mental deterioration as well as epilepsy and muscle wasting. The pigment variant cannot be distinguished from Kufs’ disease except pathologically.

Résumé

Résumé

Un cas de variante pigmentaire de la maladie de Kuf est présenté. La nature du pigment extraneuronal est discutée. Malgré quelques différences histochimiques ce pigment et le materiel qui était accumulé dans les cellules nerveuse semblaient être relies ultrastructurellement. Les hépatocytes contenaient un grand nombre de cytosomes hétérogènes, dont quelques-uns ressemblaient au matériel de surcharge de la maladie de Niemann-Pick.

Cliniquement, le syndrome peut présenter une ataxie progressive, des sursauts grossiers myocloniques spontanés et réflexes, et une détérioration mentale ainsi que de l’épilepsie qui ne peut être differentie de la maladie de Kufs sans morphologiquement.

Type
Research Article
Information
Canadian Journal of Neurological Sciences , Volume 4 , Issue 1 , February 1977 , pp. 67 - 75
Copyright
Copyright © Canadian Neurological Sciences Federation 1977

References

Bignami, A., Palladini, G. and Borri, P. (1969). Neuronal Lipidosis with visceral involvement in an adult. Acta Neuropath. (Berl.) 12, 52–61.Google Scholar
Boehme, D. H., Cottrell, J. C., Leonberg, S. C. and Zeman, W. (1971). A dominant form of neuronal ceroid-lipofuscinosis. Brain, 94, 745-60.Google Scholar
Chou, S. M. and Thomason, H. G. (1970). Electron microscopy of storage cytosomes in Kufs’ disease. Arch. Neurol., 23, 489–501.Google Scholar
Dekaban, A. S. and Herman, M. H. (1974). Childhood, juvenile and adult cerebral lipidoses. Are there different nosological entities? Arch. Pathol., 97, 65–73.Google Scholar
Dowling, E. C. Schoene, W. C. and Richardson, E. P. (1974). Hallervorden-Spatz syndrome. Arch. Neurol., 30, 70–83.Google Scholar
Jacob, H and Kolkmann, F.-W.-(1973). Zur Pigmentvariante der adulten form der amaurotischen Idiotie (Kufs). Acta Neuropath. (Berl.), 26, 225-36.Google Scholar
Jervis, G. A. (1952). Hallervorden-Spatz disease associated with atypical amaurotic idiocy J Neuropath. exp. Neurol. 11: 4–17.Google Scholar
Jervis, G. A. (1970). Rare or nosologically obscure neurolipidoses. Handbook of Clinical Neurology, Vol. 10. Vinken, P. J. and Bruyn, G. W., eds. North-Holland Publishing Company, Amsterdam, pp. 550.Google Scholar
Koeppen, A. H. W. and Barron, K. D. (1971). Superficial siderosis of the central nervous system. A histological, histochemical and chemical study. J. Neuropath. Exp. Neurol., 30, 448-69.CrossRefGoogle ScholarPubMed
Kornfeld, M. (1972). Generalized lipofuscinosis (Generalized Kufs disease). J. Neuropath. Exp. Neurol. 31, 668-81.Google Scholar
Lejeune, F., Allain, J. P., Le Coq, D. and Turpin, F. (1973). La cellule de Niemann-Pick, aspects en cytologie optique et ultrastructurale. Path.-Biol., 21, 483-96.Google Scholar
Moschel, R. (1954). Amaurotische Idiotie mit einer besonderen Form von Pigmentablagerung. Dtsch. Z. Nervenheilk. 172: 102–110.Google Scholar
Pallis, C. A., Duckett, S., Pearse, A. G. E., (1967). Diffuse Lipofuscinosis of the Central Nervous System. Neurology: 17, 381–394.Google Scholar
Park, B. E., Netsky, M. G. and Betsill, W. L. Jr., (1975). Pathogenesis of pigment and spheroid formation in Hallervorden-Spatz syndrome and related disorders. 25, 1172-8.Google ScholarPubMed
Seitelberger, F. and Simma, K. (1962). On the pigment variant of amaurotic idiocy Cerebral sphingolipidoses. Aronson, S. M. and Volk, B. W, eds. McGraw-Hill, New York, pp. 1324-8.Google Scholar
Simma, K. (1957). Zum Verlauf der Hallervorden-Spatzschen Krankheit. Psychiat. Neurol. (Basal), 133, 39–46.Google Scholar
Zeman, W. and Scarpelli, D. G. (1958). The non-specific lesions of Hallervorden-Spatz disease. J. Neuropath. exp. Neurol. 17:622–630.CrossRefGoogle Scholar
Zeman, W. and Dyken, P. (1969). Neuronal ceroid-lipofuscinosis (Batten’s disease). Relationship to amaurotic familial idiocy? Pediatrics, 44, 570-83.Google Scholar
Zeman, W. Donahue, S., Dyken, P., and Green, J. (1970). The neuronal ceroid-lipofuscinoses (Batten-Vogt-Syndrome). Handbook of Clinical Neurology. Vinken, P. J and Gruyn, G. W., eds. North-Holland Publishing Company, Amsterdam. pp. 588–679.Google Scholar
Zeman, W. (1974). Presidential Address: Studies in neuronal ceroid-lipofuscinosis. J. Neuropath. Ezp. Neurol., 33, 1–12.Google Scholar