title: Electron microscopy of skin and peripheral blood lymphocytes in infantile (Santavuori) neuronal ceroid lipofuscinosis.
abstract: Skin punch biopsies and peripheral blood lymphocyte preparations from two siblings with early infantile (Santavuori) neuronal ceroid lipofuscinosis have been examined by electron microscopy. In both cases characteristic osmiophilic inclusion bodies were found in various cells in the skin and in lymphocytes. In one case, lymphocyte inclusions were detected before the onset of any symptoms as a result of a family study. This indicates the possibility of screening lymphocytes of siblings of affected patients as a result of a family study. This indicates the possibility of screening lymphocytes of siblings of affected patients with a view to early detection of the disorder.
mesh_terms: D002566:Ceroid / Q000378:metabolism*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D007223:Infant; D008062:Lipofuscin / Q000378:metabolism*; D008214:Lymphocytes / Q000473:pathology*; D008297:Male; D008831:Microcephaly / Q000473:pathology; D009474:Neurons / Q000648:ultrastructure; D010860:Pigments, Biological / Q000378:metabolism*; D012162:Retinal Degeneration / Q000473:pathology; D012867:Skin / Q000473:pathology*; D013106:Sphingolipidoses / Q000235:genetics / Q000473:pathology*
chemical_list: D002566:Ceroid; D008062:Lipofuscin; D010860:Pigments, Biological