Diagnostic role of skin or conjunctival biopsies in neurological disorders. An update.
Updated figures from our reports on electron microscopy of skin or conjunctival biopsies include 256 patients, mostly suffering from lysosomal diseases. Significant morphological data supportive of the diagnosis and additional to enzyme assay (when and if an assay is available for the disorder) were discovered in 95% of the cases. Equivocal or negative data amounted to 5%. The present paper deals with some metabolic disorders which had not been fully dealt with in our previous publications and with an extension of the indications of skin biopsies: adult form and atypical variants of ceroid-lipofuscinoses, galactosialidosis, mucolipidosis IV, infantile neuroaxonal dystrophy, Lafora's disease, cardiomyopathy with generalized accumulation of intermediate filaments and congenital hypomyelination neuropathy. A comparison between biopsy and autopsy material in storage diseases shows that the storage of inclusions does not remain limited to one cell type or to one tissue even if no clinical signs are detectable. This ubiquitous character of the storage can be used for diagnostic purposes. On the other hand, the membrane-bound inclusions are not necessarily similar in all cell types and the search for characteristic features can be difficult in adult patients. Finally it is evident that skin biopsies can be used in other conditions than lysosomal disorders. The applicability of this procedure to other diseases needs further exploratory work.
D000293:Adolescent; D000328:Adult; D001706:Biopsy; D009202:Cardiomyopathies / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D003228:Conjunctiva / Q000473:pathology*; D004831:Epilepsies, Myoclonic / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D007787:Lactose Intolerance / Q000473:pathology; D008247:Lysosomes / Q000378:metabolism; D008297:Male; D008659:Metabolic Diseases / Q000473:pathology*; D008875:Middle Aged; D009081:Mucolipidoses / Q000473:pathology; D009422:Nervous System Diseases / Q000473:pathology*; D009439:Neuraminidase / Q000172:deficiency; D009472:Neuronal Ceroid-Lipofuscinoses / Q000473:pathology; D012867:Skin / Q000473:pathology*
D009439:Neuraminidase