<?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>0035-0052</journal-id>
<journal-title><![CDATA[Revista mexicana de pediatría]]></journal-title>
<abbrev-journal-title><![CDATA[Rev. mex. pediatr.]]></abbrev-journal-title>
<issn>0035-0052</issn>
<publisher>
<publisher-name><![CDATA[Sociedad Mexicana de Pediatría A.C.]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0035-00522024000300105</article-id>
<article-id pub-id-type="doi">10.35366/119375</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Leucodistrofia metacromática infantil con variante heterocigota compuesta en el gen ARSA]]></article-title>
<article-title xml:lang="en"><![CDATA[Infantile form of metachromatic leukodystrophy with compound heterozygous variant in ARSA]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Cabarcas-Castro]]></surname>
<given-names><![CDATA[Lissete]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ramón-Gómez]]></surname>
<given-names><![CDATA[Jorge Luis]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Espinosa-García]]></surname>
<given-names><![CDATA[Eugenia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Suárez-Obando]]></surname>
<given-names><![CDATA[Fernando]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Santamaría-Castiblanco]]></surname>
<given-names><![CDATA[Natalia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Martínez-Córdoba]]></surname>
<given-names><![CDATA[Natalia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Lince-Rivera]]></surname>
<given-names><![CDATA[Isabella]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Instituto Roosevelt  ]]></institution>
<addr-line><![CDATA[Bogotá ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidad de la Sabana  ]]></institution>
<addr-line><![CDATA[Bogotá ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Universidad Militar Nueva Granada  ]]></institution>
<addr-line><![CDATA[Bogotá ]]></addr-line>
<country>Colombia</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>06</month>
<year>2024</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>06</month>
<year>2024</year>
</pub-date>
<volume>91</volume>
<numero>3</numero>
<fpage>105</fpage>
<lpage>109</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_arttext&amp;pid=S0035-00522024000300105&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_abstract&amp;pid=S0035-00522024000300105&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_pdf&amp;pid=S0035-00522024000300105&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 de almacenamiento lisosomal de herencia autosómica recesiva causada por mutaciones en el gen de la arilsulfatasa A (ARSA). Presentamos un caso de LDM con una variante heterocigota compuesta en el gen ARSA que raramente se ha asociado con la forma infantil de la enfermedad.  Descripción del caso:  Paciente masculino, que a los 14 meses inició con regresión motora y del lenguaje, hipoacusia neurosensorial, hiporreflexia generalizada, espasticidad en miembros inferiores, ataxia, dismetría y disfagia para líquidos de progresión rápida. La actividad enzimática de ARSA en los leucocitos y plasma estaba disminuida. La resonancia magnética reveló desmielinización simétrica de la sustancia blanca cerebral. Los estudios de conducción nerviosa mostraron polineuropatía desmielinizante en las cuatro extremidades. El análisis genético reveló dos variantes probablemente patogénicas en el gen ARSA: la primera tipo nonsense en c.643C&gt;T p.Gln215* (heredada del padre) y la otra missense en c.316G&gt;A p.Glu106Lys (heredada de la madre), ambas asociadas con LDM.  Conclusiones:  El caso resalta la importancia de la caracterización genética en pacientes con LDM, a fin de evidenciar variantes que previamente no habían sido informadas.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract:  Introduction:  Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by mutations in the arylsulfatase A (ARSA) gene. We present a case of MLD with a compound heterozygous variant in the ARSA gene that has rarely been associated with the infantile form of the disease.  Case description:  Male patient, who at 14 months of age presented rapidly progressive developmental delay, characterized by motor and language regression, neurosensory hearing loss, generalized hyporeflexia, spasticity in the lower limbs, ataxia, dysmetria and dysphagia for liquids. ARSA enzymatic activity in leukocytes and plasma was decreased. Magnetic resonance imaging revealed symmetrical demyelination of the cerebral white matter. Nerve conduction studies showed demyelinating polyneuropathy in all four limbs. Genetic analysis revealed two probably pathogenic variants in the ARSA gene: the first nonsense type at c.643C&gt;T p.Gln215* (inherited from the father) and the other missense at c.316G&gt;A p.Glu106Lys (inherited from the mother), both associated with MLD.  Conclusions:  This case highlights the importance of genetic characterization in patients with MLD, in order to discover variants that had not been previously reported.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[leucodistrofia metacromática]]></kwd>
<kwd lng="es"><![CDATA[arilsulfatasa A]]></kwd>
<kwd lng="es"><![CDATA[gen ARSA]]></kwd>
<kwd lng="es"><![CDATA[enfermedad lisosomal]]></kwd>
<kwd lng="es"><![CDATA[retraso del desarrollo]]></kwd>
<kwd lng="en"><![CDATA[metachromatic leukodystrophy]]></kwd>
<kwd lng="en"><![CDATA[arylsulfatase A]]></kwd>
<kwd lng="en"><![CDATA[ARSA gene]]></kwd>
<kwd lng="en"><![CDATA[lysosomal disease]]></kwd>
<kwd lng="en"><![CDATA[developmental delay]]></kwd>
</kwd-group>
</article-meta>
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