title: Electron microscopic observation of tonsillar tissue as a diagnostic aid in early juvenile neuronal ceroid-lipofuscinosis.
abstract: An electron microscopic observation in a tonsil of a patient with early juvenile neuronal ceroid-lipofuscinosis (NCL) demonstrated characteristic lipopigments in lymphocytes, i.e., fingerprint profiles (FPP) and granular matrixes. While numerous FPP, curvilinear profiles (CLP) and granular matrixes were found in reticulo-endothelial and plasma cells, tonsillar lymphocytes contained only FPP and granular matrixes as seen in circulating lymphocytes. These findings suggest that a tonsil biopsy, an easy and simple technique, may provide more reliable information than a skin biopsy not only for the diagnosis of but also for differentiating the clinical forms of childhood NCL.
authors.affiliation: Department of Pediatrics, Yokohama City University School of Medicine, Kanagawa, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Kimura
authors.forename: H H
authors.initials: HH
authors.lastname: Goebel
mesh_terms: D002648:Child; D003937:Diagnosis, Differential; D006801:Humans; D008062:Lipofuscin / Q000032:analysis; D008214:Lymphocytes / Q000648:ultrastructure; D008297:Male; D008854:Microscopy, Electron; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis* / Q000473:pathology; D014066:Palatine Tonsil / Q000648:ultrastructure*
chemical_list: D008062:Lipofuscin