<?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>S0120-87482018000100002</article-id>
<article-id pub-id-type="doi">10.22379/24224022174</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Síndrome de Rett: revisión de la literatura con primeros casos reportados en Colombia con caracterización clínica y molecular]]></article-title>
<article-title xml:lang="en"><![CDATA[Rett syndrome: review of the literature and first cases reported in Colombia with clinical characterization and molecular diagnosis]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Hernández-Flórez]]></surname>
<given-names><![CDATA[Cristhian Eduardo]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Contreras-García]]></surname>
<given-names><![CDATA[Gustavo Adolfo]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad Industrial de Santander  ]]></institution>
<addr-line><![CDATA[Bucaramanga Santander]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidad Industrial de Santander  ]]></institution>
<addr-line><![CDATA[Bucaramanga Santander]]></addr-line>
<country>Colombia</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>03</month>
<year>2018</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>03</month>
<year>2018</year>
</pub-date>
<volume>34</volume>
<numero>1</numero>
<fpage>2</fpage>
<lpage>15</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_arttext&amp;pid=S0120-87482018000100002&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_abstract&amp;pid=S0120-87482018000100002&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_pdf&amp;pid=S0120-87482018000100002&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN  INTRODUCCIÓN: El síndrome de Rett es una condición neurológica severa y la segunda causa genética de retraso mental profundo en mujeres. Se genera por mutaciones en el gen MECP2 y es caracterizada por una pérdida de las ganancias psicomotoras, con una prevalencia general estimada de 1:10.000 niñas, según la extrapolación de algunos estudios europeos.  OBJETIVOS: Realizar una revisión de la literatura sobre el síndrome de Rett y presentar una serie de casos diagnosticados en Colombia por clínica y prueba molecular.  METODOLOGÍA: Se efectuó una búsqueda bibliográfica y de reportes de casos en 21 bases de datos internacionales, más de 14 revistas del área de la salud y dos motores de búsqueda generales entre 2014 y 2016. Los casos presentados fueron seleccionados de la consulta de genética médica realizada por los autores.  HALLAZGOS: No se encontró ningún caso colombiano de síndrome de Rett, ni confirmado con prueba molecular en Latinoamérica. Se reporta así la primera serie de casos nacional y la mayor latinoamericana, conformada por siete pacientes con tipo clásico y tres atípicos, todas con diagnóstico molecular.  CONCLUSIONES: Pese a tener una evolución clínica caracterizada, su baja prevalencia y amplio espectro clínico convierten al síndrome de Rett en un reto diagnóstico y terapéutico. La mutación c.749_750insT se reporta por primera vez, la c.473C&gt;G por segunda en la literatura y la c.763C&gt;T se presenta en dos pacientes con fenotipos totalmente distintos, lo que confirma la no correlación genotipo-fenotipo de la enfermedad.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[SUMMARY  INTRODUCTION: Rett Syndrome is a severe neurological condition and the second genetic cause of profound mental retardation in women. It is generated by mutations in the MECP2 gene and it is characterized by a loss of psychomotor gains, with an estimated overall prevalence of 1:10,000 girls, according to the extrapolation of some European studies. Objectives. To make a review of Rett Syndrome and to present a series of cases diagnosed in Colombia by clinical criteria and molecular tests.  METHODOLOGY: We made a bibliographic research in 21 international databases, more than 14 health journals and two general search engines between 2014 and 2016. The cases presented were selected from the Medical Genetics consultation carried out by the authors.  FINDINGS: No Colombian case of Rett Syndrome was found nor confirmed with molecular testing in Latin America. We report the first cases in Colombia and the largest in Latin America, consisting of seven patients with classic type and three with atypical type, all with molecular diagnosis.  CONCLUSIONS: In spite of having a characterized clinical evolution, its low prevalence and broad clinical spectrum, make Rett Syndrome a diagnostic and therapeutic challenge. We report for the first time the mutation c.749_750insT, the c.473C&gt; G for second time in the literature and the c.763C&gt; T is presented in two patients with totally different phenotypes, confirming the non-correlation genotype-phenotype of the disease.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[síndrome de Rett]]></kwd>
<kwd lng="es"><![CDATA[discapacidad intelectual]]></kwd>
<kwd lng="es"><![CDATA[MECP2]]></kwd>
<kwd lng="es"><![CDATA[prevalencia]]></kwd>
<kwd lng="es"><![CDATA[Colombia (DeCS)]]></kwd>
<kwd lng="en"><![CDATA[Rett syndrome]]></kwd>
<kwd lng="en"><![CDATA[intellectual disability]]></kwd>
<kwd lng="en"><![CDATA[MECP2]]></kwd>
<kwd lng="en"><![CDATA[rett prevalence]]></kwd>
<kwd lng="en"><![CDATA[Colombia (MeSH)]]></kwd>
</kwd-group>
</article-meta>
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