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57. Jahrestagung der Deutschen Gesellschaft für Neuropathologie und Neuroanatomie (DGNN)

Deutsche Gesellschaft für Neuropathologie und Neuroanatomie

12. - 15.09.2012, Erlangen

Banner: 57. Jahrestagung der Deutschen Gesellschaft für Neuropathologie und Neuroanatomie

The role of neuropathological investigations in lysosomal storage diseases

Meeting Abstract

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  • presenting/speaker Anne Schänzer - Institute of Neuropathology, Gießen, Germany

Deutsche Gesellschaft für Neuropathologie und Neuroanatomie. 57th Annual Meeting of the German Society for Neuropathology and Neuroanatomy (DGNN). Erlangen, 12.-15.09.2012. Düsseldorf: German Medical Science GMS Publishing House; 2012. Doc12dgnnOP09

DOI: 10.3205/12dgnn009, URN: urn:nbn:de:0183-12dgnn0096

Veröffentlicht: 11. September 2012

© 2012 Schänzer.
Dieser Artikel ist ein Open Access-Artikel und steht unter den Creative Commons Lizenzbedingungen (http://creativecommons.org/licenses/by-nc-nd/3.0/deed.de). Er darf vervielfältigt, verbreitet und öffentlich zugänglich gemacht werden, vorausgesetzt dass Autor und Quelle genannt werden.


Gliederung

Text

The role of neuropathological investigations on diagnostics and choice of treatment options has recently gained new importance, in particular in the diagnosis of lysosomal storage diseases. The investigation of skin punch biopsies for the analysis of intraepidermal nerve fibres is well established and is a very useful tool to diagnose small fiber neuropathy (SFN), which is often an early symptom of Fabry disease. The morphometric analysis of muscle pathology in Pompe disease was not established until now. We analysed muscle biopsies from patients with infantile and juvenile Pompe disease and compared morphological changes of muscle fibres with the clinical outcome under enzyme replacement therapy (ERT). Our data show a correlation between the degree of morphological changes in the initial muscle biopsy and the response to ERT. A detailed morphometric classification of muscle pathology might be helpful to determine the progress of the disease and the response to ERT. In conclusion, apart from the description of pathological storage material in cells a detailed neuropathological analysis can not only confirm the clinical diagnosis but might be helpful in verifying the disease progress and the response to therapy especially since (ERT) is available.