title: [Metachromatic Leukodystrophy. Case Presentation].
abstract: Metachromatic leukodystrophy (MLD) is a rare demyelinating disease (prevalence 1:40 000), also called arylsulfatase A deficiency (ARS-A), which may present with neurological and psychiatric symptoms. Clinical assessment may be difficult, due to unspecific signs and symptoms. A case is presented of a 16 year-old female patient seen in psychiatry due to behavioural changes, psychosis, and with impaired overall performance. She was initially diagnosed with schizophrenia, but the Nuclear Magnetic Resonance (NMR) scan and laboratory tests lead to the diagnosis of MLD.
authors.affiliation: Clínica Nuestra Señora de La Paz, Bogotá, Colombia.
authors.forename: Lina María
authors.initials: LM
authors.lastname: Espejo
authors.affiliation: Pontificia Universidad Javeriana, Bogotá, Colombia.
authors.forename: Ricardo
authors.initials: R
authors.lastname: de la Espriella
authors.affiliation: Médico especialista en neurología, Bogotá, Colombia. Electronic address: josefernandoh@gmail.com.
authors.forename: José Fernando
authors.initials: JF
authors.lastname: Hernández
mesh_terms: D000293:Adolescent; D005260:Female; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000503:physiopathology; D008279:Magnetic Resonance Imaging / Q000379:methods*; D012559:Schizophrenia / Q000175:diagnosis*
keywords: Demyelinating disease; Enfermedad desmielinizante; Leucodistrofia metacromática; Metachromatic leukodystrophy; Psicosis; Psychosis