title: [Muscular biopsy in ceroid lipofuscinosis: 3 case reports of juvenile form].
abstract: Ceroid lipofuscinosis (CLF) is a progressive hereditary neurodegenerative disease characterised by deposits in the central nervous system and other tissues of ceroid lipopigment. Symptomatology and clinical course of the disease are heterogeneous and up to ten types have been distinguished, although the most frequent and best known are the Santavuori-Haltia infantile form, the Jansky-Bielschowsky late infantile form, the Spielmeyer-Vogt juvenile form and the Kufs adult form. We present here three cases diagnosed as having juvenile ceroid lipofuscinosis by means of muscular biopsy. Although morphological and ultrastructural findings in CLF have already been described in literature, the use of muscular biopsy as a means of diagnosis is not usual and its usefulness is not very well known. For this reason, we especially recommend this method for its simplicity and diagnostic specificity.
authors.affiliation: Servicio de Neurologia, Hospital Juan Canalejo, La Coruña.
authors.forename: R
authors.initials: R
authors.lastname: Pego
authors.forename: M C
authors.initials: MC
authors.lastname: Amigo
authors.forename: D
authors.initials: D
authors.lastname: Escriche
authors.forename: J
authors.initials: J
authors.lastname: Romero
authors.forename: C
authors.initials: C
authors.lastname: Navarro
mesh_terms: D000293:Adolescent; D001706:Biopsy; D005260:Female; D006801:Humans; D015227:Lipid Peroxidation; D008247:Lysosomes / Q000648:ultrastructure; D008297:Male; D008931:Mitochondria, Muscle / Q000648:ultrastructure; D018482:Muscle, Skeletal / Q000473:pathology* / Q000648:ultrastructure; D009472:Neuronal Ceroid-Lipofuscinoses / Q000235:genetics / Q000473:pathology*; D012867:Skin / Q000648:ultrastructure