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Blood lymphocytes in neuronal ceroid lipofuscinosis
No full textUltrastructural examination of white blood cells of 8 patients with neuronal ceroid lipofuscinosis showed the characteristic cytosomes, i.e. curvilinear bodies, fingerprint profiles, osmiophilic bodies, as seen in nerve cells. The reliability of this simple technique in the diagnostic work-up of this progressive neurodegenerative disorder is emphasized. © 1988 Masson Italia Periodici
Neuronal ceroid lipofuscinoses: pathological features of bioptic specimens from 28 patients
No full textClinical 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 in 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
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