Artikel
The role of neuropathological investigations in lysosomal storage diseases
Suche in Medline nach
Autoren
Veröffentlicht: | 11. September 2012 |
---|
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.