<?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>0186-2391</journal-id>
<journal-title><![CDATA[Acta pediátrica de México]]></journal-title>
<abbrev-journal-title><![CDATA[Acta pediatr. Méx]]></abbrev-journal-title>
<issn>0186-2391</issn>
<publisher>
<publisher-name><![CDATA[Instituto Nacional de Pediatría]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0186-23912017000300165</article-id>
<article-id pub-id-type="doi">10.18233/apm38no3pp165-1741388</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Mutación m.3271T&gt;C del gen MT-TL1 en encefalopatía mitocondrial, acidosis láctica y episodios stroke like (MELAS) en edad pediátrica. A propósito de un caso]]></article-title>
<article-title xml:lang="en"><![CDATA[Mutation m.3271T &gt; C in the MT- TL1 gene in Mitochondrial Encephalopathy, Lactic Acidosis and Stroke Like Episodes (MELAS) in pediatric age. Case report.]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[García-Beristain]]></surname>
<given-names><![CDATA[JC]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Barragán-Pérez]]></surname>
<given-names><![CDATA[EJ]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Hospital Infantil de México Federico Gómez departamento de neurología ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Mexico</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Hospital Infantil de México Federico Gómez departamento de neurología ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Mexico</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>06</month>
<year>2017</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>06</month>
<year>2017</year>
</pub-date>
<volume>38</volume>
<numero>3</numero>
<fpage>165</fpage>
<lpage>174</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_arttext&amp;pid=S0186-23912017000300165&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_abstract&amp;pid=S0186-23912017000300165&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_pdf&amp;pid=S0186-23912017000300165&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen  INTRODUCCIÓN: la encefalopatía mitocondrial, acidosis láctica y episodios stroke like (MELAS) es una enfermedad metabólica poco común, que usualmente se presenta con crisis epilépticas y episodios stroke like en personas jóvenes. Se ha visto que 7 a 15% de los pacientes con MELAS tienen transiciones T a C en la posición de nucleótido 3271 (T3271C). La mayoría de los pacientes descritos con esta asociación son de origen japonés. La alteración del estado mental y la esquizofrenia, que en ocasiones puede preceder o acompañar a los episodios stroke-like en MELAS, pueden encontrarse incluso en familiares afectados por la misma mutación en T3271C. Los niños con MELAS tienen amplio espectro de presentaciones clínicas, en las que predominan los episodios stroke like.  OBJETIVO: describir los datos clínicos relacionados con la mutación m.3271&gt;C del gen MT-TL1 en MELAS en un paciente.  CASO CLÍNICO: niña de 11 años de edad en cuya historia había cuadro de enfermedad vascular cerebral con manifestaciones visuales principalmente y posterior deterioro hemodinámico franco con estado de choque, hiperlactatemia y desequilibrio ácido-base severo, lo que permitió determinar la presencia de la mutación m.3271T&gt;C en heteroplasmia del gen MT-TL1 compatible con MELAS.  CONCLUSIONES: se puede considerar que en los pacientes con alteraciones ácido-base severas e hiperlactatemia franca, que pueda condicionar inestabilidad hemodinámica o estado de choque, se encuentran en relación directa con esta mutación, por lo que en estos pacientes sería necesario un estudio inmediato ante la sospecha, incluyendo la confirmación molecular del mismo en vista de lo agresivo y progresivo del cuadro.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  INTRODUCTION: Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes (MELAS) is a rare metabolic disease that usually presents with seizures and stroke-like episodes in young people. It been determined that 7 to 15% of patients with MELAS have transitions T to C at nucleotide position 3271 (T3271C). Most patients reported with this association are of Japanese origin. Altered mental status and schizophrenia can sometimes precede or accompany stroke-like episodes in MELAS; they can be found even in families affected by the same mutation T3271C. Children with MELAS have a wide range of clinical presentations, which are predominant Stroke-like episodes.  OBJECTIVE: To describe the clinical findings related to m.3271 &gt; C mutation of the MT- TL1 gene in MELAS syndrome in this pediatric case.  CLINICAL CASE: A case of an 11 years old female who presents clinical evidence of Cerebral Vascular Accident (CVA) with visual manifestation followed by hemodynamic deterioration, severe shock whit hyperlactatemia and acid-base imbalance. It was determined that there was mutation m.3271T&gt; C heteroplasmy in the MT-TL1 gene compatible with MELAS.  CONCLUSIONS: We believe that patients with stroke, abnormal acid-base and severe hiperlactatemia could lead to hemodynamic instability or shock, in direct relation with this mutation. Therefore these patients must be immediately studied to make the suspected diagnosis. The study must include molecular confirmation before the condition become aggressive and progressive.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[MELAS]]></kwd>
<kwd lng="es"><![CDATA[encefalopatía]]></kwd>
<kwd lng="es"><![CDATA[genética]]></kwd>
<kwd lng="es"><![CDATA[stroke]]></kwd>
<kwd lng="es"><![CDATA[mutación]]></kwd>
<kwd lng="es"><![CDATA[acidosis]]></kwd>
<kwd lng="es"><![CDATA[m.3271T&gt;C]]></kwd>
<kwd lng="es"><![CDATA[gen]]></kwd>
<kwd lng="en"><![CDATA[MELAS]]></kwd>
<kwd lng="en"><![CDATA[encephalopaty]]></kwd>
<kwd lng="en"><![CDATA[genetic]]></kwd>
<kwd lng="en"><![CDATA[stroke]]></kwd>
<kwd lng="en"><![CDATA[mutation]]></kwd>
<kwd lng="en"><![CDATA[acidosis]]></kwd>
<kwd lng="en"><![CDATA[m.3271T&gt;C]]></kwd>
<kwd lng="en"><![CDATA[gene]]></kwd>
</kwd-group>
</article-meta>
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