<?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>S0035-00522023000400149</article-id>
<article-id pub-id-type="doi">10.35366/114764</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Síndrome de Shashi-Pena]]></article-title>
<article-title xml:lang="en"><![CDATA[Shashi-Pena syndrome]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Vázquez-Montante]]></surname>
<given-names><![CDATA[José de Jesús]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Silva-Pérez]]></surname>
<given-names><![CDATA[Israel]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Martínez-Díaz]]></surname>
<given-names><![CDATA[Paulatte]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Bravo-Oro]]></surname>
<given-names><![CDATA[Antonio]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Hospital Central &#8220;Dr. Ignacio Morones Prieto&#8221; Departamento de Genética Médica Servicio de Pediatría]]></institution>
<addr-line><![CDATA[San Luis Potosí ]]></addr-line>
<country>México</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Hospital Central &#8220;Dr. Ignacio Morones Prieto&#8221; Departamento de Neurología Pediátrica Servicio de Pediatría]]></institution>
<addr-line><![CDATA[San Luis Potosí ]]></addr-line>
<country>México</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>08</month>
<year>2023</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>08</month>
<year>2023</year>
</pub-date>
<volume>90</volume>
<numero>4</numero>
<fpage>149</fpage>
<lpage>152</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_arttext&amp;pid=S0035-00522023000400149&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_abstract&amp;pid=S0035-00522023000400149&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_pdf&amp;pid=S0035-00522023000400149&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen:  Introducción:  el síndrome de Shashi-Pena está caracterizado por macrocefalia, discapacidad intelectual y epilepsia, el cual se confirma por estudios genéticos.  Presentación del caso:  paciente masculino de 15 años, con antecedente de ser pretérmino de 36 semanas de gestación, peso 1,900 gramos. Desde el nacimiento se detectó con hipotonía periférica y problemas de deglución. A los tres años presentó estado epiléptico. Actualmente con problemas de aprendizaje. Exploración física con macrocefalia y anomalías faciales. En resonancia magnética de cráneo se identificó septum cavum vergae. Coeficiente intelectual de 53. En estudio molecular se reportó una variante en el gen ASXL2, c.2843C&gt;T (p.Ala948Val).  Conclusiones:  las variantes en el gen ASXL2 se asocian al síndrome de Shashi-Pena; su sospecha podría derivarse de la detección de pacientes con macrocefalia asociado a otras comorbilidades.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract:  Introduction:  Shashi-Pena syndrome is characterized by macrocephaly, intellectual disability and epilepsy, which is confirmed by genetic studies.  Case presentation:  15-year-old male patient, with a history of being preterm at 36 weeks of gestation, weight 1,900 grams. From birth he was detected with peripheral hypotonia and swallowing problems. At the age of three he presented status epilepticus. Currently with learning difficulties. Physical examination revealed macrocephaly and facial anomalies. A skull MRI identified septum cavum vergae. IQ was 53 points. In a molecular study, a variant in the ASXL2 gene, c.2843C&gt;T (p.Ala948Val), was reported.  Conclusions:  variants in the ASXL2 gene are associated with Shashi-Pena syndrome. The diagnosis of this syndrome could result from the detection of patients with macrocephaly associated with other comorbidities.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Shashi-Pena]]></kwd>
<kwd lng="es"><![CDATA[macrocefalia]]></kwd>
<kwd lng="es"><![CDATA[discapacidad intelectual]]></kwd>
<kwd lng="es"><![CDATA[epilepsia]]></kwd>
<kwd lng="es"><![CDATA[ASXL2]]></kwd>
<kwd lng="en"><![CDATA[Shashi-Pena]]></kwd>
<kwd lng="en"><![CDATA[macrocephaly]]></kwd>
<kwd lng="en"><![CDATA[intellectual disability]]></kwd>
<kwd lng="en"><![CDATA[epilepsy]]></kwd>
<kwd lng="en"><![CDATA[ASXL2]]></kwd>
</kwd-group>
</article-meta>
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