title: Electron microscopic studies on skin and lymphocytes in early juvenile neuronal ceroid-lipofuscinosis.
abstract: Skin and lymphocytes of three patients with early juvenile neuronal ceroid-lipofuscinosis (NCL) were ultrastructurally investigated. Fingerprint profiles (FPP), isolated and/or mixed with curvilinear profiles (CLP), in various dermal cells and large, usually single lipopigments delineated by a trilaminar membrane and filled with a granular matrix, FPP and occasionally lipid droplets in lymphocytes were observed in all three patients. Characteristic lipopigments in lymphocytes are an important feature to differentiate between early juvenile NCL and late infantile and juvenile NCL.
authors.affiliation: Division of Neuropathology, University of Mainz, Federal Republic of Germany.
authors.forename: S
authors.initials: S
authors.lastname: Kimura
authors.forename: H H
authors.initials: HH
authors.lastname: Goebel
mesh_terms: D002648:Child; D002675:Child, Preschool; D006801:Humans; D008062:Lipofuscin / Q000032:analysis; D008214:Lymphocytes / Q000648:ultrastructure*; D008854:Microscopy, Electron; D009472:Neuronal Ceroid-Lipofuscinoses / Q000473:pathology*; D012867:Skin / Q000648:ultrastructure*
chemical_list: D008062:Lipofuscin