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

Título traducido de la contribución: Leucodistrofia metacromática. Presentación de caso

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

Departamento de Psiquiatría y Salud Mental

Producción: Contribución a una revista › Artículo › revisión exhaustiva

7 Citas (Scopus)

Resumen

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.

Título traducido de la contribución	Leucodistrofia metacromática. Presentación de caso
Idioma original	Inglés
Páginas (desde-hasta)	44-49
Número de páginas	6
Publicación	Revista Colombiana de Psiquiatria
Volumen	46
N.º	1
DOI	https://doi.org/10.1016/j.rcp.2016.05.001
Estado	Publicada - 01 ene. 2017

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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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AU - Hernández, José Fernando

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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.

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Metachromatic Leukodystrophy. Case Presentation

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