title: [Canavan's disease: apropos of a case].
abstract: One case of spongy degeneration of CNS in infancy is presented. Main clinical features were, complete failure of motor and mental development, sudden hypotonia and hyperreflexia, blindness and optic atrophy. Computed tomography demonstrated a decrease in white matter density of cerebral hemispheres. Histopathological studies confirmed clinical diagnosis of Canavan's disease and indicated presence of abnormal mitochondria in accordance with those reported in the literature.
authors.affiliation: Servicio de Pediatría, Residencia Sanitaria Torrecárdenas, Almería.
authors.forename: T
authors.initials: T
authors.lastname: del Moral García
authors.forename: C
authors.initials: C
authors.lastname: Rodríguez Arias
authors.forename: M D
authors.initials: MD
authors.lastname: Muñoz Sánchez-Reyes
authors.forename: J
authors.initials: J
authors.lastname: López Muñoz
mesh_terms: D002549:Diffuse Cerebral Sclerosis of Schilder / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D008928:Mitochondria / Q000648:ultrastructure*; D014057:Tomography, X-Ray Computed
vernacular_title: Enfermedad de Canavan: a propósito de un caso.