title: [Early infantile ceroid lipofuscinosis -- role of nuclear magnetic resonance in the diagnosis].
abstract: The authors report a case of Infantile Neuronal Ceroid Lipofuscinosis and emphasize the role of MRI in the diagnosis and follow-up of the disease describing a severe progressive cerebral atrophy. Clinical findings and laboratory data were reviewed and the importance of palmitoyl-protein thiosterase activity is described.
authors.affiliation: Serviços de Neurorradiologia, Neurologia e Pediatria (Unidade de Neuropediatria), Hospital Pedro Hispano, Matosinhos.
authors.forename: A M
authors.initials: AM
authors.lastname: Reis
authors.forename: Z
authors.initials: Z
authors.lastname: Magalhães
authors.forename: C
authors.initials: C
authors.lastname: Barbosa
authors.forename: D
authors.initials: D
authors.lastname: Alves
authors.forename: J R
authors.initials: JR
authors.lastname: Pereira
mesh_terms: D002648:Child; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009472:Neuronal Ceroid-Lipofuscinoses / Q000473:pathology*