<?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>0186-2391</journal-id>
<journal-title><![CDATA[Acta pediátrica de México]]></journal-title>
<abbrev-journal-title><![CDATA[Acta pediatr. Méx]]></abbrev-journal-title>
<issn>0186-2391</issn>
<publisher>
<publisher-name><![CDATA[Instituto Nacional de Pediatría]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0186-23912017000300152</article-id>
<article-id pub-id-type="doi">10.18233/apm38no3pp152-1641387</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Enfermedad de Niemann Pick tipo-A. Presentación de 12 casos]]></article-title>
<article-title xml:lang="en"><![CDATA[Niemann Pick disease type-A: presentation of 12 cases.]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Zarco-Román]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Romero-Gómez]]></surname>
<given-names><![CDATA[HE]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Carbajal-Rodríguez]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Instituto Nacional de Pediatría servicio de Medicina Interna ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Mexico</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Instituto Nacional de Pediatría  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Mexico</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Instituto Nacional de Pediatría servicio de Medicina Interna ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Mexico</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>06</month>
<year>2017</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>06</month>
<year>2017</year>
</pub-date>
<volume>38</volume>
<numero>3</numero>
<fpage>152</fpage>
<lpage>164</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_arttext&amp;pid=S0186-23912017000300152&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_abstract&amp;pid=S0186-23912017000300152&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_pdf&amp;pid=S0186-23912017000300152&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 A es una enfermedad hereditaria de depósito lisosomal, debida a un déficit de la enzima esfingomielinasa ácida, lo que da lugar a la acumulación de esfingomielina en las células del sistema reticuloendotelial y nervioso central.  OBJETIVO: se describe el curso de la enfermedad de Niemann Pick tipo A en 12 pacientes: tres niños y nueve niñas, con edades entre 3 a 33 meses.  MATERIAL Y MÉTODOS: estudio retrospectivo efectuado con base en la información de los expedientes de 12 pacientes, evaluados mediante un examen físico completo, oftalmológico, análisis de laboratorio, ultrasonido de abdomen, tomografía axial computarizada o resonancia magnética nuclear cerebral, radiografías de tórax, ecocardiograma, electroencefalograma, potenciales evocados auditivos y visuales, serie esofagogastroduodenal y serie ósea. Se obtuvo información sobre enfermedades intercurrentes y causas de muerte.  RESULTADOS: la sintomatología comenzó en promedio a los 5.9 meses (2 a 16 meses) y el diagnóstico definitivo se realizó a la edad de los 15.6 meses (3 a 33 meses) a través del cuadro clínico sugestivo, con presencia de células espumosas en el aspirado de médula ósea 12/12 (100%) y deficiencia de la enzima esfingomielinasa ácida en 12/12 pacientes (100%); la biopsia hepática fue sugestiva de enfermedad por atesoramiento en 5/12 (41.6%). Las manifestaciones clínicas por orden de frecuencia fueron: hepatoesplenomegalia y afección neurológica en 12/12 (100%), alteración pulmonar 11/12 (91.6%), hematológica 9/12 (80%), oftalmológica con mancha rojo cereza 9/12 (75%), ósea 6/12 (50%), y cardiaca 4/12 (33.3%). Únicamente hubo antecedente de consanguinidad en 4 familias (33.3%).  CONCLUSIONES: el curso clínico de la enfermedad de Niemann Pick tipo A es muy similar entre los pacientes afectados, el primer dato clínico detectado es la hepatoesplenomegalia. Los pacientes están asintomáticos los primeros 4 meses de vida, posterior a los cuales presentan un curso neurodegenerativo que conduce a la muerte antes de los 3 años.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  INTRODUCTION: Niemann Pick disease type A (ENP-A) is a lysosomal storage disease caused by a deficit of acid sphingomyelinase enzyme (ASM), which results in the accumulation of sphingomyelin in cells of the reticuloendothelial and central nervous system.  OBJECTIVE: We describe the clinical course of the ENP-A in twelve patients, three boys and nine girls, between the ages of 3-33 months.  MATERIAL AND METHODS: The retrospective study was based on the medical files of the 12 patients, evaluated with a complete physical and ophthalmologic examination, as well as laboratory tests, abdominal ultrasound, computed tomography (CT) or magnetic resonance imaging (MRI) of the brain, chest radiography, echocardiography, EEG, upper gastrointestinal series, and bone age. Information about intercurrent diseases and causes of death, were obtained.  RESULTS: The symptoms started at 5.9 months (2-16 months) and the definitive diagnosis was made at the age of 15.6 months (3-33 months) through suggestive clinical manifestations, with a presence of foam cells in the bone marrow of 12/12 patients (100%) and ASM enzyme deficiency in 12/12 patients (100%); hepatic biopsy was suggestive in 5/12 (41.6%). Clinical signs in order of frequency were: hepatosplenomegaly and neurological disease in 12/12 (100%), lung disorder 11/12 (91.6%), hematologic affection 9/12 (80%), cherry-red spot 9/12 (75%), bone involved 6/12 (50%), and cardiac disease 4/12 (33.3%). Only 4 cases (33.3%) were consanguineous.  CONCLUSIONS: The clinical course of the ENP-A is very similar among affected patients; the first clinical manifestation detected was hepatosplenomegaly. The first 4 months of life of the patients were asymptomatic; then they showed a neurodegenerative course that leads to death before reaching the age of 3 years.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[enfermedad de Niemann Pick tipo A]]></kwd>
<kwd lng="es"><![CDATA[mancha rojo cereza]]></kwd>
<kwd lng="es"><![CDATA[hepatoesplenomegalia]]></kwd>
<kwd lng="en"><![CDATA[Niemann Pick type A]]></kwd>
<kwd lng="en"><![CDATA[cherry-red spot]]></kwd>
<kwd lng="en"><![CDATA[hepatosplenomegaly]]></kwd>
</kwd-group>
</article-meta>
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<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Nishizawa]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Yamashita]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Tada]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
</person-group>
<source><![CDATA[Tohoku J ExpMed]]></source>
<year>1978</year>
<volume>125</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>11-7</page-range></nlm-citation>
</ref>
</ref-list>
</back>
</article>
