Metachromatic Leukodystrophy. Case Presentation

Lina María Espejo; Ricardo de la Espriella; José Fernando Hernández

doi:10.1016/j.rcp.2016.05.001

Metachromatic Leukodystrophy. Case Presentation

Lina María Espejo
, Ricardo de la Espriella
, José Fernando Hernández

Department of Psychiatry and Mental Health

Research output: Contribution to journal › Article › peer-review

9 Scopus citations

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.

Translated title of the contribution	Leucodistrofia metacromática. Presentación de caso
Original language	English
Pages (from-to)	44-49
Number of pages	6
Journal	Revista Colombiana de Psiquiatria
Volume	46
Issue number	1
DOIs	https://doi.org/10.1016/j.rcp.2016.05.001
State	Published - 01 Jan 2017

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Keywords

Demyelinating disease
Metachromatic leukodystrophy
Psychosis

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10.1016/j.rcp.2016.05.001

Cite this

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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.",

keywords = "Demyelinating disease, Metachromatic leukodystrophy, Psychosis",

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note = "Publisher Copyright: {\textcopyright} 2016 Asociaci{\'o}n Colombiana de Psiquiatr{\'i}a",

year = "2017",

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doi = "10.1016/j.rcp.2016.05.001",

language = "English",

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T1 - Metachromatic Leukodystrophy. Case Presentation

AU - Espejo, Lina María

AU - de la Espriella, Ricardo

AU - Hernández, José Fernando

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Y1 - 2017/1/1

N2 - 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.

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.

KW - Demyelinating disease

KW - Metachromatic leukodystrophy

KW - Psychosis

UR - https://www.scopus.com/pages/publications/85008178842

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SN - 0034-7450

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SP - 44

EP - 49

JO - Revista Colombiana de Psiquiatria

JF - Revista Colombiana de Psiquiatria

IS - 1

ER -

Metachromatic Leukodystrophy. Case Presentation

Abstract

UN SDGs

Keywords

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