<?xml version="1.0" encoding="ISO-8859-1"?><article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance">
<front>
<journal-meta>
<journal-id>0120-8748</journal-id>
<journal-title><![CDATA[Acta Neurológica Colombiana]]></journal-title>
<abbrev-journal-title><![CDATA[Acta Neurol Colomb.]]></abbrev-journal-title>
<issn>0120-8748</issn>
<publisher>
<publisher-name><![CDATA[Asociación Colombiana de Neurología]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0120-87482022000300081</article-id>
<article-id pub-id-type="doi">10.22379/24224022412</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Leucodistrofia metacromática del adulto: reporte de caso]]></article-title>
<article-title xml:lang="en"><![CDATA[Adult-onset metachromatic leukodystrophy]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Beltrán Carrascal]]></surname>
<given-names><![CDATA[Elkin José]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[López Brokate]]></surname>
<given-names><![CDATA[Laura]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Hernández González]]></surname>
<given-names><![CDATA[María Isabel]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Espitia De La Hoz]]></surname>
<given-names><![CDATA[Juan José]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Domínguez Guzmán]]></surname>
<given-names><![CDATA[David Andrés]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Fundación Universidad del Norte  ]]></institution>
<addr-line><![CDATA[Barranquilla Atlántico]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidad CES  ]]></institution>
<addr-line><![CDATA[Medellín Antioquia]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Centro de salud San Pedro Sucre  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Universidad del Norte  ]]></institution>
<addr-line><![CDATA[Barranquilla ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af5">
<institution><![CDATA[,Clínica Foscal internacional (Fosunab)  ]]></institution>
<addr-line><![CDATA[Bucaramanga ]]></addr-line>
<country>Colombia</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>06</month>
<year>2022</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>06</month>
<year>2022</year>
</pub-date>
<volume>38</volume>
<numero>2</numero>
<fpage>81</fpage>
<lpage>84</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_arttext&amp;pid=S0120-87482022000300081&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_abstract&amp;pid=S0120-87482022000300081&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_pdf&amp;pid=S0120-87482022000300081&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN  INTRODUCCIÓN: La leucodistrofia metacromática (LDM) es una enfermedad poco frecuente que se caracteriza por desmielinización progresiva a nivel del sistema nervioso central y periférico. En la mayoría de los casos, es causada por una actividad deficiente de la enzima arilsulfatasa-A. Pertenece al grupo de las leucodistrofias, que son trastornos hereditarios de la sustancia blanca asociados con una variabilidad fenotípica y una heterogeneidad genética importante. El fenotipo de la LDM suele relacionarse con la edad de presentación, que puede variar desde la infancia hasta la adultez. Cuando se presenta en la edad adulta, puede debutar con manifestaciones neuropsiquiátricas, lo que lleva con frecuencia a diagnósticos erróneos.  REPORTE DE CASO: Se presenta el caso de una paciente adulta que debutó con un cuadro clínico caracterizado por cambios comportamentales progresivos, con posterior inicio de manifestaciones clínicas motoras. El diagnóstico de LDM se sospechó a partir de la clínica y los hallazgos típicos en la resonancia magnética (RM) cerebral, y se confirmó con la detección de actividad deficiente de la arilsulfatasa-A (ARSA) y la secuenciación del gen ARSA que confirmó la mutación en estado homocigoto, compatible con este diagnóstico.  DISCUSIÓN: Destacamos en este caso la importancia de la sospecha clínica, el reconocimiento temprano y el manejo multidisciplinario como factores pronósticos del curso de la enfermedad, ya que en la actualidad no hay tratamiento definitivo para la enfermedad.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT  INTRODUCTION: Metachromatic leukodystrophy (MLD) is an infrequent disease characterized by progressive demyelination of the central and peripheral nervous system. In most cases, it is caused by deficient activity of arylsulfatase-A. It belongs to the group of leukodystrophies, which are inherited white matter disorders that can be associated with significant phenotypic variability and genetic heterogeneity. The phenotype in MLD is usually related to the age of onset, which can vary from childhood to adulthood. Adult-onset MLD can debut with neuropsychiatry symptoms, which can often lead to misdiagnosis.  CASE REPORT: We report the case of an adult female patient who presented with progressive behavioral changes, followed by motor manifestations. MLD was initially suspected based on the clinical presentation and the characteristic findings on brain magnetic resonance imaging (MRI), with subsequent confirmation by detection of deficient arylsulfatase-A (ARSA) activity and ARSA gene sequencing, which demonstrated homozygosity, compatible with this diagnosis.  DISCUSSION: We highlight the importance of clinical suspicion, early recognition and multidisciplinary management as a prognostic factor for the course of the disease, since there is currently no definitive treatment for the disease.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Leucodistrofia metacromática]]></kwd>
<kwd lng="es"><![CDATA[Cerebrósido sulfatasa]]></kwd>
<kwd lng="es"><![CDATA[Imagen por resonancia magnética]]></kwd>
<kwd lng="es"><![CDATA[Trastornos heredodegenerativos del sistema nervioso (DeCS)]]></kwd>
<kwd lng="en"><![CDATA[Leukodystrophy, metachromatic]]></kwd>
<kwd lng="en"><![CDATA[Demyelinating, diseases]]></kwd>
<kwd lng="en"><![CDATA[Cerebroside-sulfatase]]></kwd>
<kwd lng="en"><![CDATA[Magnetic resonance imaging (MeSH)]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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