Annals of Diagnostic Paediatric Pathology
نویسنده
چکیده
The neuronal lipofuscinoses (NCLs) are described as a complex of inherited neurodegenerative disorders associated with intralysosomal accumulation of lipopigment in neuronal and extraneuronal cells. Morphologic pathology in NCL is marked by two processes: degeneration and loss of neuronal cells of central nervous system, resulting in atrophy of the cerebrum and cerebellum and widespread accumulation of autofluorescent lysosomal lipopigments of varying ultrastructure, the demonstration of which allows diagnostic recognition of NCL disease. Ultrastructural examinations of affected tissues may diclose 5 different patterns of lipopigments: usual lipofuscin, fingerprint deposits, granular profiles, curvilinear bodies, and microtubular aggregates, which may be found in conjunctiva, liver, lymphocytes, skin, full thickness rectal biopsies material. Deposits characteristic for NCL are ultrastructurally observed also in trophoblastic cells and amniotic fluid cells. Ultrastructural studies of biopsy tissues in order to identify pattern of pigment remains the gold standrad to identify NCL, together with clinical aspects and respective gene defects. Advances in molecular genetic techniques have allowed to identification of defective genes and their protein products in some NCL clinical forms.
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تاریخ انتشار 2011