Juvenile type of generalized ceroid-lipofuscinosis (Spielmeyer-Sjögren syndrome): II. biopsy findings

Schwendemann, G. and Colmant, H. J. and Elze, K. L. and Koepp, P. and Lagenstein, I. and Steinhausen, Hans-Christoph. (1978) Juvenile type of generalized ceroid-lipofuscinosis (Spielmeyer-Sjögren syndrome): II. biopsy findings. Neuropädiatrie, 9 (1). pp. 28-48.

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Rectal biopsies were obtained from 11 children, clinically presumed to suffer from the juvenile type of generalized ceroid-lipofuscinosis. In addition, sural nerve biopsies were performed in 4 cases. Of the various staining procedures applied for light microscopy, Sundan Black B was found to be the most useful, revealing in each of the rectal biopsies at least some nerve cells with coarse black droplets as well as numerous mucosal macrophages with a more greyish, dustlike material. In sural nerve biopsies a slight reduction of the thick myelinated nerve fibers was seen in two cases, accompanied by regeneration phenomena. The latter were also detectable in one other case, the remaining sural nerve biopsy being histologically unremarkable. By electron microscopy neuronal perikarya revealed lipopigment bodies with a fingerprint-like pattern in each of the rectal biopsies. In one case only was this pattern combined with distinct curvilinear profiles. In 4 cases, however, the fingerprint-like deposits were intermingled with different lamellated bodies, some of them reminiscent of MCB's or zebra bodies. In two of the 4 cases, these were even seen exclusively in some neurons. In each of the rectal as well as the sural nerve biopsies, most of the non-neuronal cell types presented lipopigment bodies, likewise, displaying both curvilinear and fingerpring-like profiles, with some characteristics related to the various cell types. With regard to generalized ceroid-lipofuscinosis the diagnostic value of rectal biopsies, though being disputed in the literature, appears reestablished by the findings presented.
Faculties and Departments:07 Faculty of Psychology > Departement Psychologie > Forschungsbereich Klinische Psychologie und Neurowissenschaften > Klinische Psychologie und Epidemiologie (Lieb)
UniBasel Contributors:Steinhausen, Hans-Christoph
Item Type:Article, refereed
Article Subtype:Research Article
Publisher:Georg Thieme Verlag
Note:Publication type according to Uni Basel Research Database: Journal article
Identification Number:
Last Modified:15 Nov 2017 09:56
Deposited On:03 Nov 2017 09:42

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