<?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>S0034-75312019000300012</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Enfermedad de Niemann-Pick en una escolar]]></article-title>
<article-title xml:lang="en"><![CDATA[Niemann-Pick Disease in a scholar girl]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Vargas Díaz]]></surname>
<given-names><![CDATA[José]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Garófalo Gómez]]></surname>
<given-names><![CDATA[Nicolás]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Novoa López]]></surname>
<given-names><![CDATA[Lucía Margarita]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Bello Carbonell]]></surname>
<given-names><![CDATA[Sonia María]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[de Greta Bermúdez Linarez]]></surname>
<given-names><![CDATA[Vivian]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Instituto de Neurología y Neurocirugía  ]]></institution>
<addr-line><![CDATA[La Habana ]]></addr-line>
<country>Cuba</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>09</month>
<year>2019</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>09</month>
<year>2019</year>
</pub-date>
<volume>91</volume>
<numero>3</numero>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_arttext&amp;pid=S0034-75312019000300012&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_abstract&amp;pid=S0034-75312019000300012&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_pdf&amp;pid=S0034-75312019000300012&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN  Introducción:  La enfermedad de Niemann-Pick tipo C es una enfermedad poco frecuente, autosómica recesiva, caracterizada por el depósito de lípidos a nivel lisosomal, que, a pesar de ser tratable, es mortal en todos los casos y representa una importante carga para los pacientes y sus familias.  Objetivo:  Contribuir al conocimiento de esta rara enfermedad neurovisceral progresiva de curso fatal.  Presentación del caso:  Se trata de una niña de 7 años de edad, que a los 2 años asistió a consulta por trastornos de la marcha, con deterioro progresivo de esta, así como del lenguaje y el comienzo de crisis epilépticas. Evolutivamente presentó cataplejías gelásticas, paresia de la mirada vertical y esplenomegalia. Estos elementos clínicos evolutivos fueron lo suficientemente distintivos para orientar la sospecha clínica y las investigaciones necesarias para llegar al diagnóstico definitivo de la enfermedad. Con la confirmación de que se trataba de la enfermedad de Niemann-Pick tipo C, se comenzó tratamiento con miglustad a dosis de 100 mg dos veces al día.  Conclusiones:  El deterioro neurológico progresivo, la cataplejía gelástica, la paresia de la mirada vertical y la esplenomegalia, unido a los resultados del medulograma y el estudio genético permitieron el diagnóstico de esta entidad.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT  Introduction: Niemann-Pick type C disease is a non-frequent, recessive autosomal one, which is characterized by lipids deposit in the lysosomal level. Although this disease is treatable, it is fatal in all the cases and it represents a important burden to patients and their families.  Objective: To contribute to the knowledge on this rare, progressive neurovisceral disease with fatal evolution.  Case presentation:  Seven- years- old girl, whom at two years old attended to a consultation for walk disorders presenting a progressive worsening of it, as well of the speech, and also presented an onset of epileptic crisis. In the evolution she presented gelastic cataplexy, vertical look´s paresia and splenomegaly. These clinical evolutive elements were sufficiently distinctive to indicate the clinical suspicion and the necessary research to reach its definitive diagnostic. With the confirmation of Niemann-Pick type C disease, miglustad was used as treatment with a dose of 100 mg twice in the day.  Conclusions: Progressive neurological worsening, gelastic cataplexy, vertical look´s paresia and splenomegaly joined with the results of a medulogram and the genetic study permitted this disease to be identified.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[enfermedad de Niemann-Pick Tipo C]]></kwd>
<kwd lng="es"><![CDATA[NP-C]]></kwd>
<kwd lng="es"><![CDATA[índice de sospecha]]></kwd>
<kwd lng="es"><![CDATA[diagnóstico]]></kwd>
<kwd lng="es"><![CDATA[tratamiento]]></kwd>
<kwd lng="es"><![CDATA[miglustat]]></kwd>
<kwd lng="en"><![CDATA[Niemann-Pick type C disease]]></kwd>
<kwd lng="en"><![CDATA[NP-C]]></kwd>
<kwd lng="en"><![CDATA[suspicion index]]></kwd>
<kwd lng="en"><![CDATA[diagnostic]]></kwd>
<kwd lng="en"><![CDATA[treatment]]></kwd>
<kwd lng="en"><![CDATA[miglustat]]></kwd>
</kwd-group>
</article-meta>
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