<?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>S0035-00522023000300111</article-id>
<article-id pub-id-type="doi">10.35366/114205</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Patrón de convulsiones de recién nacido con enfermedad de la orina con olor a jarabe de arce]]></article-title>
<article-title xml:lang="en"><![CDATA[Seizure pattern in neonate with maple syrup urine disease]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Orrego-Manrique]]></surname>
<given-names><![CDATA[María]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Galdos-Béjar]]></surname>
<given-names><![CDATA[Marcelo]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Cam]]></surname>
<given-names><![CDATA[Luis]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Clínica Internacional  ]]></institution>
<addr-line><![CDATA[Lima ]]></addr-line>
<country>Perú</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Clínica Internacional  ]]></institution>
<addr-line><![CDATA[Lima ]]></addr-line>
<country>Perú</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Clínica Internacional  ]]></institution>
<addr-line><![CDATA[Lima ]]></addr-line>
<country>Perú</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>90</volume>
<numero>3</numero>
<fpage>111</fpage>
<lpage>114</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_arttext&amp;pid=S0035-00522023000300111&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_abstract&amp;pid=S0035-00522023000300111&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_pdf&amp;pid=S0035-00522023000300111&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen:  Introducción:  las convulsiones neonatales representan un reto para establecer sus causas. La enfermedad de la orina de jarabe de arce (MSUD, por sus siglas en inglés) es un error innato del metabolismo. Estos pacientes pueden presentar un tipo de crisis convulsivas, distintas de otras etiologías.  Descripción del caso:  femenino de siete días de edad con problemas de alimentación y crisis convulsivas tipo &#8220;espadachín&#8221; y &#8220;ciclismo&#8221;. Después de descartar múltiples causas, el diagnóstico de MSUD se estableció por tamiz neonatal.  Conclusiones:  en neonatos con crisis convulsivas es importante su correcta caracterización clínica para orientar los estudios de laboratorio y de gabinete, a fin de lograr el diagnóstico etiológico oportuno, como los errores innatos del metabolismo.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract:  Introduction:  neonatal seizures represent a challenge in establishing their causes. Maple syrup urine disease (MSUD) is a rare inborn error of metabolism. These patients may present certain types of seizures that are distinctive from other diseases.  Case description:  seven-day-old female patient with feeding problems and &#8220;swordsman&#8221; and &#8220;cycling&#8221; seizures. After ruling out multiple causes, the diagnosis of MSUD was established by neonatal metabolic screening.  Conclusions:  in neonates with seizures, their correct clinical characterization is important to guide laboratory and imaginology studies, to achieve the etiological diagnosis, such as inborn errors of metabolism.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[enfermedad de la orina de jarabe de arce]]></kwd>
<kwd lng="es"><![CDATA[convulsiones neonatales]]></kwd>
<kwd lng="es"><![CDATA[aminoacidopatías]]></kwd>
<kwd lng="es"><![CDATA[cribado neonatal]]></kwd>
<kwd lng="en"><![CDATA[maple syrup urine disease]]></kwd>
<kwd lng="en"><![CDATA[neonatal seizures]]></kwd>
<kwd lng="en"><![CDATA[aminoacidopathies]]></kwd>
<kwd lng="en"><![CDATA[neonatal screening]]></kwd>
</kwd-group>
</article-meta>
</front><back>
<ref-list>
<ref id="B1">
<label>1</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Arrudi-Moreno]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[García-Romero]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Samper-Villagrasa]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Sánchez-Malo]]></surname>
<given-names><![CDATA[MJ]]></given-names>
</name>
<name>
<surname><![CDATA[Martin-de-Vicente]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Cribado neonatal de fibrosis quística: análisis y diferencias de los niveles de tripsina inmunorreactiva en recién nacidos con cribado positivo]]></article-title>
<source><![CDATA[An Pediatr (Barc)]]></source>
<year>2021</year>
<volume>95</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>11-7</page-range></nlm-citation>
</ref>
<ref id="B2">
<label>2</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Farrell]]></surname>
<given-names><![CDATA[PM]]></given-names>
</name>
<name>
<surname><![CDATA[Rosentein]]></surname>
<given-names><![CDATA[BJ]]></given-names>
</name>
<name>
<surname><![CDATA[White]]></surname>
<given-names><![CDATA[TB]]></given-names>
</name>
<name>
<surname><![CDATA[Accurso]]></surname>
<given-names><![CDATA[FJ]]></given-names>
</name>
<name>
<surname><![CDATA[Castellani]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Cutting]]></surname>
<given-names><![CDATA[GR]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Guidelines for diagnosis of cystic fibrosis in newborns through older adults: cystic fibrosis foundation consesus report]]></article-title>
<source><![CDATA[J Pediatr]]></source>
<year>2008</year>
<volume>153</volume>
<page-range>S4-S14</page-range></nlm-citation>
</ref>
<ref id="B3">
<label>3</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Chen]]></surname>
<given-names><![CDATA[Q]]></given-names>
</name>
<name>
<surname><![CDATA[Shen]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Zheng]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[A review of cystic fibrosis: Basic and clinical aspects]]></article-title>
<source><![CDATA[Animal Model Exp Med]]></source>
<year>2021</year>
<volume>4</volume>
<numero>3</numero>
<issue>3</issue>
<page-range>220-32</page-range></nlm-citation>
</ref>
<ref id="B4">
<label>4</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Crossley]]></surname>
<given-names><![CDATA[JR]]></given-names>
</name>
<name>
<surname><![CDATA[Elliott]]></surname>
<given-names><![CDATA[RB]]></given-names>
</name>
<name>
<surname><![CDATA[Smith]]></surname>
<given-names><![CDATA[PA]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Dried-blood spot screening for cystic fibrosis in the newborn]]></article-title>
<source><![CDATA[Lancet]]></source>
<year>1979</year>
<volume>1</volume>
<numero>8114</numero>
<issue>8114</issue>
<page-range>472-4</page-range></nlm-citation>
</ref>
<ref id="B5">
<label>5</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Hernández]]></surname>
<given-names><![CDATA[GG]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Cribado neonatal de fibrosis quística]]></article-title>
<source><![CDATA[Anales de Pediatría Continuada]]></source>
<year>2014</year>
<volume>12</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>34-8</page-range></nlm-citation>
</ref>
<ref id="B6">
<label>6</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Gartner]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Mondéjar-López]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Asensio de la Cruz]]></surname>
<given-names><![CDATA[O]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Protocolo de seguimiento de pacientes con fibrosis quística diagnosticados por cribado neonatal]]></article-title>
<source><![CDATA[An Pediatr (Barc)]]></source>
<year>2019</year>
<volume>90</volume>
<numero>4</numero>
<issue>4</issue>
<page-range>251.e1-251.e10</page-range></nlm-citation>
</ref>
<ref id="B7">
<label>7</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Fajac]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
<name>
<surname><![CDATA[Wainwright]]></surname>
<given-names><![CDATA[CE]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[New treatments targeting the basic defects in cystic fibrosis]]></article-title>
<source><![CDATA[Presse Med]]></source>
<year>2017</year>
<volume>46</volume>
<numero>6</numero>
<issue>6</issue>
<page-range>e165-75</page-range></nlm-citation>
</ref>
<ref id="B8">
<label>8</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Naehrig]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Chao]]></surname>
<given-names><![CDATA[CM]]></given-names>
</name>
<name>
<surname><![CDATA[Naehrlich]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Cystic fibrosis]]></article-title>
<source><![CDATA[Dtsch Arztebl Int]]></source>
<year>2017</year>
<volume>114</volume>
<numero>33-34</numero>
<issue>33-34</issue>
<page-range>564-74</page-range></nlm-citation>
</ref>
<ref id="B9">
<label>9</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Cutting]]></surname>
<given-names><![CDATA[GR]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Cystic fibrosis genetics: from molecular understanding to clinical application]]></article-title>
<source><![CDATA[Nat Rev Genet]]></source>
<year>2015</year>
<volume>16</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>45-56</page-range></nlm-citation>
</ref>
<ref id="B10">
<label>10</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Wiencek]]></surname>
<given-names><![CDATA[JR]]></given-names>
</name>
<name>
<surname><![CDATA[Lo]]></surname>
<given-names><![CDATA[SF]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Advances in the diagnosis and management of cystic fibrosis in the genomic era]]></article-title>
<source><![CDATA[Clin Chem]]></source>
<year>2018</year>
<volume>64</volume>
<numero>6</numero>
<issue>6</issue>
<page-range>898-908</page-range></nlm-citation>
</ref>
<ref id="B11">
<label>11</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Férec]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Scotet]]></surname>
<given-names><![CDATA[V]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Genetics of cystic fibrosis: basics]]></article-title>
<source><![CDATA[Arch Pediatr]]></source>
<year>2020</year>
<volume>27</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>eS4-7</page-range></nlm-citation>
</ref>
<ref id="B12">
<label>12</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Meng]]></surname>
<given-names><![CDATA[X]]></given-names>
</name>
<name>
<surname><![CDATA[Clews]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Kargas]]></surname>
<given-names><![CDATA[V]]></given-names>
</name>
<name>
<surname><![CDATA[Wang]]></surname>
<given-names><![CDATA[X]]></given-names>
</name>
<name>
<surname><![CDATA[Ford]]></surname>
<given-names><![CDATA[RC]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[The cystic fibrosis transmembrane conductance regulator (CFTR) and its stability]]></article-title>
<source><![CDATA[Cell Mol Life Sci]]></source>
<year>2017</year>
<volume>74</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>23-38</page-range></nlm-citation>
</ref>
<ref id="B13">
<label>13</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Férec]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Cystic fibrosis: From gene discovery to precision medicine]]></article-title>
<source><![CDATA[Med Sci]]></source>
<year>2021</year>
<volume>37</volume>
<numero>6-7</numero>
<issue>6-7</issue>
<page-range>618-24</page-range></nlm-citation>
</ref>
<ref id="B14">
<label>14</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Egan]]></surname>
<given-names><![CDATA[ME]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Genetics of cystic fibrosis: clinical implications]]></article-title>
<source><![CDATA[Clin Chest Med]]></source>
<year>2016</year>
<volume>37</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>9-16</page-range></nlm-citation>
</ref>
</ref-list>
</back>
</article>
