<?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>1665-1146</journal-id>
<journal-title><![CDATA[Boletín médico del Hospital Infantil de México]]></journal-title>
<abbrev-journal-title><![CDATA[Bol. Med. Hosp. Infant. Mex.]]></abbrev-journal-title>
<issn>1665-1146</issn>
<publisher>
<publisher-name><![CDATA[Instituto Nacional de Salud, Hospital Infantil de México Federico Gómez]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1665-11462015000400262</article-id>
<article-id pub-id-type="doi">10.1016/j.bmhimx.2015.07.006</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Síndrome de hipoventilación alveolar central congénita]]></article-title>
<article-title xml:lang="en"><![CDATA[Congenital central alveolar hypoventilation syndrome]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Herrera-Flores]]></surname>
<given-names><![CDATA[Edwin Hernando]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Rodríguez-Tejada]]></surname>
<given-names><![CDATA[Alfredo]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Reyes-Zúñiga]]></surname>
<given-names><![CDATA[Martha Margarita]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Torres-Fraga]]></surname>
<given-names><![CDATA[Martha Guadalupe]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Castorena-Maldonado]]></surname>
<given-names><![CDATA[Armando]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Carrillo-Alduenda]]></surname>
<given-names><![CDATA[José Luis]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Instituto Nacional de Enfermedades Respiratorias Clínica de Trastornos Respiratorios del Dormir ]]></institution>
<addr-line><![CDATA[México D.F.]]></addr-line>
<country>MX</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>08</month>
<year>2015</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>08</month>
<year>2015</year>
</pub-date>
<volume>72</volume>
<numero>4</numero>
<fpage>262</fpage>
<lpage>270</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_arttext&amp;pid=S1665-11462015000400262&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_abstract&amp;pid=S1665-11462015000400262&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_pdf&amp;pid=S1665-11462015000400262&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[ResumenIntroducción: El síndrome de hipoventilación alveolar central congénita (SHACC) es un raro trastorno respiratorio del dormir, aunque cada vez más frecuentemente diagnosticado en clínicas de sueño y servicios de neumología pediátrica. Si bien se desconoce su epidemiología, en la literatura médica existen cerca de 300 casos reportados, y su incidencia es de 1 caso por cada 200,000 recién nacidos vivos. Se caracteriza por hipoventilación alveolar que se presenta o empeora durante el sueño. Es secundario a la disminución/ausencia de la respuesta ventilatoria a la hipercapnia o hipoxemia, y en el 90% de los casos es debido a una mutación tipo PARM del gen PHOX2B. Su tratamiento incluye ventilación mecánica y marcapasos diafragmático. Si la terapéutica no se inicia en forma temprana, el paciente desarrollará insuficiencia respiratoria crónica, hipertensión arterial pulmonar, cor pulmonale y la muerte.Casos clínicos: Se presentan tres casos de SHACC diagnosticados, tratados y en seguimiento en la Clínica de Trastornos Respiratorios del Dormir del Instituto Nacional de Enfermedades Respiratorias.Conclusiones: El diagnóstico temprano es importante para el inicio del soporte ventilatorio, y para prevenir el desarrollo de complicaciones y reducir la mortalidad.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[AbstractBackground: Congenital central alveolar hypoventilation syndrome (CCAHS) is a rare sleep-related breathing disorder. Although increasingly frequently diagnosed in sleep clinics and pediatric pulmonology services, its epidemiology is not known. There are about 300 reported cases reported in the literature with an incidence of 1 case per 200,000 live births. CCAHS is characterized by alveolar hypoventilation that occurs or worsens during sleep and is secondary to a reduction/absence of the ventilatory response to hypercapnia and/or hypoxemia. In 90% of the cases it is due to a PARM-type mutation of the PHOX2B gene. Treatment includes mechanical ventilation and diaphragmatic pacemaker. If therapy is not initiated promptly the patient can evolve to chronic respiratory failure, pulmonary hypertension, cor pulmonale and death.Case reports: In this paper we present three cases of CCAHS diagnosed, treated and followed up at the Sleep Disorders Clinic of the National Institute of Respiratory Diseases in Mexico.Conclusions: Early diagnosis is important to initiate ventilatory support so as to prevent any complications and to reduce mortality.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Síndrome de hipoventilación alveolar central congénita]]></kwd>
<kwd lng="es"><![CDATA[Trastorno pediátrico del sueño relacionado con la respiración]]></kwd>
<kwd lng="es"><![CDATA[Gen PHOX2B]]></kwd>
<kwd lng="en"><![CDATA[Congenital central alveolar hypoventilation syndrome]]></kwd>
<kwd lng="en"><![CDATA[Pediatric sleep-related breathing disorder]]></kwd>
<kwd lng="en"><![CDATA[PHOX2B gene]]></kwd>
</kwd-group>
</article-meta>
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