<?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>1996-3696</journal-id>
<journal-title><![CDATA[Revista del Instituto de Medicina Tropical]]></journal-title>
<abbrev-journal-title><![CDATA[Rev. Inst. Med. Trop.]]></abbrev-journal-title>
<issn>1996-3696</issn>
<publisher>
<publisher-name><![CDATA[Instituto de Medicina Tropical]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1996-36962023000100081</article-id>
<article-id pub-id-type="doi">10.18004/imt/2023.18.1.10</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Síndrome de Aicardi-Goutieres: Diagnóstico genético en una lactante]]></article-title>
<article-title xml:lang="en"><![CDATA[Aicardi-Goutieres Syndrome: Genetic diagnosis in a nursing infant]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ayala]]></surname>
<given-names><![CDATA[Zoilo Morel]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Glizt]]></surname>
<given-names><![CDATA[Romina]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Florentín]]></surname>
<given-names><![CDATA[Cynthia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Instituto de Previsión Social Hospital Central. Departamento de Pediatría ]]></institution>
<addr-line><![CDATA[Asunción ]]></addr-line>
<country>Paraguay</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Instituto de Previsión Social Hospital Central. Servicio de Reumatología ]]></institution>
<addr-line><![CDATA[Asunción ]]></addr-line>
<country>Paraguay</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Instituto de Previsión Social Hospital Central. Servicio de Neurología ]]></institution>
<addr-line><![CDATA[Asunción ]]></addr-line>
<country>Paraguay</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>06</month>
<year>2023</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>06</month>
<year>2023</year>
</pub-date>
<volume>18</volume>
<numero>1</numero>
<fpage>81</fpage>
<lpage>85</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.iics.una.py/scielo.php?script=sci_arttext&amp;pid=S1996-36962023000100081&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.iics.una.py/scielo.php?script=sci_abstract&amp;pid=S1996-36962023000100081&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.iics.una.py/scielo.php?script=sci_pdf&amp;pid=S1996-36962023000100081&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN El Síndrome de Aicardi-Goutieres (SAG) se caracteriza por una encefalopatía genética, progresiva, de inicio temprano, que se asocia a un proceso inflamatorio. Además del SNC, puede afectar a la piel, con erupciones tipo sabañones, y presentar microcefalia, talla baja, disfunción hepática, disfunción tiroidea, reactantes de fase aguda elevados, anticuerpos autoinmunes positivos y asociaciones para enfermedades sistémicas autoinmunes como él LES. El SAG presenta locus heterogénicos, con mutaciones identificadas en los genes que codifican el exonucleasa TREX1 3´&#8594;5´ y las tres subunidades del complejo de endonucleasa RNASEH2. Se presenta el caso de una paciente de 2 años de edad, con retraso del desarrollo psicomotor, sin otras manifestaciones sistémicas, diagnosticada como SAG, con variante c.529G(A (p.Ala177Thr) con efecto patogénico en homocigosis en el gen RNASEH2B.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT Aicardi-Goutieres Syndrome (AGS) is characterized by an early-onset, progressive, genetic encephalopathy associated with an inflammatory process. In addition to the CNS, it can affect the skin, with chilblain-like eruptions, and present with microcephaly, short stature, liver dysfunction, thyroid dysfunction, elevated acute phase reactants, positive autoimmune antibodies, and associations for autoimmune systemic diseases such as SLE. SAG presents heterogeneous loci, with mutations identified in the genes encoding the TREX1 3'&#8594;5' exonuclease and the three subunits of the RNASEH2 endonuclease complex. We present the case of a female 2-year-old patient, with delayed psychomotor development, without other systemic manifestations, diagnosed as SAG, with variant c.529G&gt;A (p.Ala177Thr) with a pathogenic effect in homozygosis in the RNASEH2B gene.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Síndrome de Aicardi-Goutieres]]></kwd>
<kwd lng="es"><![CDATA[interferonopatías]]></kwd>
<kwd lng="es"><![CDATA[gen RNASEH2B]]></kwd>
<kwd lng="es"><![CDATA[leucoencefalopatías]]></kwd>
<kwd lng="en"><![CDATA[Aicardi-Goutieres syndrome]]></kwd>
<kwd lng="en"><![CDATA[interferonopathies]]></kwd>
<kwd lng="en"><![CDATA[RNASEH2B gene]]></kwd>
<kwd lng="en"><![CDATA[leukoencephalopathies]]></kwd>
</kwd-group>
</article-meta>
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