<?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>0034-7531</journal-id>
<journal-title><![CDATA[Revista Cubana de Pediatría]]></journal-title>
<abbrev-journal-title><![CDATA[Rev Cubana Pediatr]]></abbrev-journal-title>
<issn>0034-7531</issn>
<publisher>
<publisher-name><![CDATA[Centro Nacional de Información de Ciencias MédicasEditorial Ciencias Médicas]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0034-75312022000400013</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Córnea plana congénita y error innato del metabolismo en un niño]]></article-title>
<article-title xml:lang="en"><![CDATA[Congenital flat cornea and inborn error of metabolism in a child]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Castro Cárdenas]]></surname>
<given-names><![CDATA[Karyna]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Sigler Morales]]></surname>
<given-names><![CDATA[Jessica Georgina]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Sigler Villanueva]]></surname>
<given-names><![CDATA[Aldo Amado]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Pozo Alonso]]></surname>
<given-names><![CDATA[Albia Josefina]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad de Ciencias Médicas de Ciego de Ávila Hospital Provincial Docente &#8220;Dr. Antonio Luaces Iraola&#8221; Centro Oftalmológico]]></institution>
<addr-line><![CDATA[ Ciego de Ávila]]></addr-line>
<country>Cuba</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Miami International Cardiology Consultants  ]]></institution>
<addr-line><![CDATA[ Florida]]></addr-line>
<country>Estados Unidos</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Universidad de Ciencias Médicas de La Habana Hospital Pediátrico Universitario &#8220;William Soler&#8217;&#8217; Servicio de Neuropediatría]]></institution>
<addr-line><![CDATA[ La Habana]]></addr-line>
<country>Cuba</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>12</month>
<year>2022</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>12</month>
<year>2022</year>
</pub-date>
<volume>94</volume>
<numero>4</numero>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_arttext&amp;pid=S0034-75312022000400013&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_abstract&amp;pid=S0034-75312022000400013&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_pdf&amp;pid=S0034-75312022000400013&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN  Introducción:  La córnea plana congénita es una rara anomalía de herencia autosómica dominante o recesiva. Los defectos del ciclo de la urea son errores innatos del metabolismo que puede producir encefalopatía progresiva.  Objetivo:  Describir las características clínicas de un paciente con diagnósticos de córnea plana congénita y error innato del metabolismo.  Presentación del caso:  Paciente masculino de 7 años de edad, miembro de la cuarta generación de una familia con diagnóstico de córnea plana congénita. Al examen oftalmológico se observó en ambos ojos esclerización superior del limbo, aplanamiento corneal generalizado y cámaras anteriores estrechas. La topografía corneal mostró patrones esféricos y aplanamiento corneal más prominente en la media y extrema periferia. A la edad de 5 años comenzó a presentar ataxia recurrente, crisis epilépticas de inicio focal motoras clónicas en el hemicuerpo derecho y vómitos. Ingresó en estado de coma en la unidad de cuidados intensivos pediátricos del Hospital Pediátrico Universitario &#8220;William Soler&#8221;. Se planteó encefalopatía progresiva por trastorno en el ciclo de la urea luego de constatarse hiperamonemia (error congénito del metabolismo), sin acidosis metabólica.  Conclusiones:  La córnea plana congénita es una enfermedad caracterizada por aplanamiento corneal generalizado con repercusión en la calidad visual. Los errores innatos del metabolismo debidos a trastornos en el ciclo de la urea se caracterizan por manifestaciones neurológicas graves con peligro potencial para la vida. Resulta novedosa la presentación de estas dos enfermedades infrecuentes en un mismo paciente, asociación que no aparece publicada con anterioridad.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT  Introduction:  Congenital flat cornea is a rare anomaly of dominant or recessive autosomal inheritance. Urea cycle defects are inborn errors of metabolism that can lead to progressive encephalopathy.  Objective:  To describe the clinical characteristics of a patient with diagnoses of congenital flat cornea and inborn error of metabolism.  Case Presentation:  A 7-year-old male patient, member of the fourth generation of a family diagnosed with congenital flat cornea. Ophthalmological examination showed upper limbal sclerization, generalized corneal flattening and narrow anterior chambers in both eyes. Corneal topography showed more prominent spherical patterns and corneal flattening in the middle and extreme periphery. At the age of 5 years, he began to present recurrent ataxia, focal onset epileptic seizures of clonic motor in the right hemibody and vomiting. He was admitted in a coma in the pediatric intensive care unit of "William Soler" University Pediatric Hospital. Progressive encephalopathy was stated due to disorder in the urea cycle after hyperammonemia (congenital error of metabolism) was observed, without metabolic acidosis.  Conclusions:  Congenital flat cornea is a disease characterized by generalized corneal flattening with an impact on visual quality. Inborn errors of metabolism due to disorders in the urea cycle are characterized by severe neurological manifestations with potential danger to life. The presentation of these two rare diseases in the same patient is novel; an association that has not been published previously.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[córnea plana congénita]]></kwd>
<kwd lng="es"><![CDATA[esclerocórnea]]></kwd>
<kwd lng="es"><![CDATA[hiperamonemia]]></kwd>
<kwd lng="es"><![CDATA[error innato del metabolismo]]></kwd>
<kwd lng="es"><![CDATA[defectos del ciclo de la urea]]></kwd>
<kwd lng="en"><![CDATA[congenital flat cornea]]></kwd>
<kwd lng="en"><![CDATA[sclerocornea]]></kwd>
<kwd lng="en"><![CDATA[hyperammonemia]]></kwd>
<kwd lng="en"><![CDATA[inborn error of metabolism]]></kwd>
<kwd lng="en"><![CDATA[defects of the urea cycle]]></kwd>
</kwd-group>
</article-meta>
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