Document Detail

Diagnostic role of skin or conjunctival biopsies in neurological disorders. An update.
MedLine Citation:
PMID:  6434701     Owner:  NLM     Status:  MEDLINE    
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.
C Ceuterick; J J Martin
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Journal of the neurological sciences     Volume:  65     ISSN:  0022-510X     ISO Abbreviation:  J. Neurol. Sci.     Publication Date:  1984 Aug 
Date Detail:
Created Date:  1984-11-19     Completed Date:  1984-11-19     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0375403     Medline TA:  J Neurol Sci     Country:  NETHERLANDS    
Other Details:
Languages:  eng     Pagination:  179-91     Citation Subset:  IM    
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MeSH Terms
Cardiomyopathies / pathology
Child, Preschool
Conjunctiva / pathology*
Epilepsies, Myoclonic / pathology
Lactose Intolerance / pathology
Lysosomes / metabolism
Metabolic Diseases / pathology*
Middle Aged
Mucolipidoses / pathology
Nervous System Diseases / pathology*
Neuraminidase / deficiency
Neuronal Ceroid-Lipofuscinoses / pathology
Skin / pathology*
Reg. No./Substance:

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