PMID- 28193373 OWN - NLM STAT- MEDLINE DCOM- 20170922 LR - 20170922 IS - 0034-7450 (Print) IS - 0034-7450 (Linking) VI - 46 IP - 1 DP - 2017 Jan-Mar TI - [Metachromatic Leukodystrophy. Case Presentation]. PG - 44-49 LID - S0034-7450(16)30034-8 [pii] LID - 10.1016/j.rcp.2016.05.001 [doi] AB - 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. CI - Copyright (c) 2016 Asociacion Colombiana de Psiquiatria. Publicado por Elsevier Espana. All rights reserved. FAU - Espejo, Lina Maria AU - Espejo LM AD - Clinica Nuestra Senora de La Paz, Bogota, Colombia. FAU - de la Espriella, Ricardo AU - de la Espriella R AD - Pontificia Universidad Javeriana, Bogota, Colombia. FAU - Hernandez, Jose Fernando AU - Hernandez JF AD - Medico especialista en neurologia, Bogota, Colombia. Electronic address: josefernandoh@gmail.com. LA - spa PT - Case Reports PT - Journal Article TT - Leucodistrofia metacromatica. Presentacion de caso. DEP - 20160616 PL - Colombia TA - Rev Colomb Psiquiatr JT - Revista colombiana de psiquiatria JID - 0045130 SB - IM MH - Adolescent MH - Female MH - Humans MH - Leukodystrophy, Metachromatic/*diagnosis/diagnostic imaging/physiopathology MH - Magnetic Resonance Imaging/*methods MH - Schizophrenia/*diagnosis OTO - NOTNLM OT - Demyelinating disease OT - Enfermedad desmielinizante OT - Leucodistrofia metacromatica OT - Metachromatic leukodystrophy OT - Psicosis OT - Psychosis EDAT- 2017/02/15 06:00 MHDA- 2017/09/25 06:00 CRDT- 2017/02/15 06:00 PHST- 2015/12/30 00:00 [received] PHST- 2016/04/04 00:00 [revised] PHST- 2016/05/03 00:00 [accepted] PHST- 2017/02/15 06:00 [entrez] PHST- 2017/02/15 06:00 [pubmed] PHST- 2017/09/25 06:00 [medline] AID - S0034-7450(16)30034-8 [pii] AID - 10.1016/j.rcp.2016.05.001 [doi] PST - ppublish SO - Rev Colomb Psiquiatr. 2017 Jan-Mar;46(1):44-49. doi: 10.1016/j.rcp.2016.05.001. Epub 2016 Jun 16.