title: [Neuronal ceroid-lipofuscinosis. Report of 4 cases with study by rectal histochemistry, conjunctiva electron microscopy and necropsy].
abstract: The authors present the neuropathological and clinical findings of four cases of ceroid lipofuscinosis or Batten's disease. In two cases the autopsy findings showed brain atrophy and nerve cells packed with cytoplasmic granules compatible with lipofuscin. One case was diagnosed by histochemical techniques in frozen sections of rectal biopsy which showed myoenteric ganglion cells with cytoplasmic acid phosphatase positive material as well as numerous macrophages filled with lipofuscin in the mucosae. The fourth case diagnosed by electron microscopy of conjunctival biopsy which showed cytoplasmic inclusions of membranous, curvilinear and fingerprint types.
authors.affiliation: Unidade de Neuropatologia e Microscopia Eletrônica, Hospital de Clínicas, Universidade Federal do Paraná (UFPR), Curitiba, Brasil.
authors.forename: L F
authors.initials: LF
authors.lastname: Torres
authors.forename: I
authors.initials: I
authors.lastname: Bruck
authors.forename: S
authors.initials: S
authors.lastname: Antoniuk
authors.forename: L
authors.initials: L
authors.lastname: Oliva
authors.forename: L
authors.initials: L
authors.lastname: De Noronha
authors.forename: J L
authors.initials: JL
authors.lastname: Pereira
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D003228:Conjunctiva / Q000648:ultrastructure; D005260:Female; D006801:Humans; D007223:Infant; D008062:Lipofuscin / Q000032:analysis; D008854:Microscopy, Electron; D009472:Neuronal Ceroid-Lipofuscinoses / Q000473:pathology* / Q000503:physiopathology
chemical_list: D008062:Lipofuscin
vernacular_title: Lipofuscinose ceróide neuronal. Relato de quatro casos com estudo por histoquímica retal, microscopia eletrônica de conjuntiva e necrópsia.