ISSN:
1590-3478
Keywords:
Key words NCLs
;
Peripheral biopsies
;
Brain biopsy
;
Blood lymphocytes
;
Electron microscopy
;
Pathological cytosomes
;
Diagnostic criteria
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract Clinical findings and pathological features of 28 patients affected with neuronal ceroid lipofuscinoses (NCL) are reviewed. The patient group included 15 children affected with the late-infantile form of NCL (LINCL), 10 patients affected with the juvenile form (JNCL), and 3 adult cases. Ultrastructural examinations of 50 biopsies from 6 tissues were consistent with clinical features in all LINCL and JNCL cases but one. The importance of electron microscopic (EM) examination of blood lymphocytes in these forms is outlined, particularly when combined with molecular analysis of the CLN2 or CLN3 genes, respectively. This approach leads to a definite diagnosis of LINCL and JNCL is a relatively short time. In adult NCL, diagnosis still relies on pathological grounds, and difficulties in interpreting the osmiophilic storage bodies in different tissues are outlined. EM investigation of blood lymphocytes was not helpful in any case of adult NCL. Results of one stereotactic brain biopsy are also reported.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/s100720070042
