<?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>1729-519X</journal-id>
<journal-title><![CDATA[Revista Habanera de Ciencias Médicas]]></journal-title>
<abbrev-journal-title><![CDATA[Rev haban cienc méd]]></abbrev-journal-title>
<issn>1729-519X</issn>
<publisher>
<publisher-name><![CDATA[Universidad de Ciencias Médicas de la Habana]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1729-519X2021000200006</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Mutación novel en el Síndrome Sanfilippo B. Presentación de un caso]]></article-title>
<article-title xml:lang="en"><![CDATA[A novel mutation in Sanfilippo Syndrome type B. Case report]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Chiong Quesada]]></surname>
<given-names><![CDATA[Carmen María]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Acosta Sánchez]]></surname>
<given-names><![CDATA[Tatiana]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[de la Fuente Carbonell]]></surname>
<given-names><![CDATA[Sofía Marela]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Centro Provincial de Genética Médica  ]]></institution>
<addr-line><![CDATA[Camagüey ]]></addr-line>
<country>Cuba</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidad de Ciencias Médicas de La Habana  ]]></institution>
<addr-line><![CDATA[La Habana ]]></addr-line>
<country>Cuba</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Centro Nacional de Genética Médica  ]]></institution>
<addr-line><![CDATA[La Habana ]]></addr-line>
</aff>
<aff id="Af4">
<institution><![CDATA[,Policlínico General Integral &#8220;Tula Aguilera&#8221;  ]]></institution>
<addr-line><![CDATA[Camagüey ]]></addr-line>
<country>Cuba</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>04</month>
<year>2021</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>04</month>
<year>2021</year>
</pub-date>
<volume>20</volume>
<numero>2</numero>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_arttext&amp;pid=S1729-519X2021000200006&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_abstract&amp;pid=S1729-519X2021000200006&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_pdf&amp;pid=S1729-519X2021000200006&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN  Introducción:  El Síndrome Sanfilippo B es un error innato en el metabolismo lisosomal, con herencia autosómica recesiva. Se caracteriza por facie ligeramente tosca, deterioro neurológico progresivo y poca repercusión somática, provocado por mutaciones en el gen NAGLU, cuyo locus es 17q21.2. La incidencia internacionalmente es muy baja y en Cuba solo se han diagnosticado siete pacientes desde 1985.  Objetivo:  Describir las manifestaciones clínicas, bioquímicas y moleculares de un paciente cubano diagnosticado con Síndrome Sanfilippo B.  Presentación de Caso:  Se describió un paciente de 13 años, cuyas principales manifestaciones clínicas fueron: facie ligeramente tosca, sinofris, alteraciones de conducta y deterioro neurológico progresivo. El trastorno del sueño fue ocasional y frecuente las infecciones respiratorias. Se demostró la presencia de colitis ulcerativa y pólipo intestinal. Se confirmó excreción aumentada de heparán sulfato y disminución de la actividad enzimática N-acetil &#945;D-glucosaminidasa. Se identificó la mutación c.640dupC en el gen NAGLU en homocigosis en el paciente y ambos padres resultaron ser portadores.  Conclusiones:  Predominaron las alteraciones de conducta, deterioro neurológico progresivo e infecciones respiratorias en el caso reportado; siendo la colitis ulcerativa y el pólipo intestinal un hallazgo no descrito anteriormente para esta enfermedad. Los estudios cromatográficos y enzimáticos resultaron positivos para Sanfilippo B. El genotipo de este paciente resultó ser homocigótico para una nueva variante alélica patogénica en el gen NAGLU. Se demostró la segregación mendeliana de la mutación en la familia.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT  Introduction:  Sanfilippo syndrome type B is an autosomal recessive lysosomal storage disease. The frequent clinical manifestations include slightly coarse facial features, progressive neurodegeneration and mild somatic repercussion caused by mutations in the NAGLU gene, whose locus is 17q21.2. The worldwide incidence is very low and only seven patients have been diagnosed in Cuba since 1985.  Objective:  To describe clinical, biochemical and molecular characteristics of a Cuban patient with the diagnosis of Sanfilippo Syndrome type B.  Case presentation:  A 13 years old patient was described. The main clinical manifestations included mild coarse facie, synophrys, behavior disturbances, and progressive neurologic deterioration. Intermittent sleep disturbance and frequent upper respiratory infections were identified. Ulcerative colitis and intestinal polyp were demonstrated. Increased excretion of heparan sulfate and very low N-acetyl &#945;-Dglucosaminidase activity were confirmed. In addition, the presence of mutation c.640dupC in NAGLU gene was identified. The patient had homozygous genotype and both parents were heterozygous.  Conclusions:  Behavioral alterations, progressive neurological deterioration and respiratory infections predominated in the reported case. Other findings such as ulcerative colitis and intestinal polyps were not previously described in this disease. The chromatographic and enzymatic studies were positive for Sanfilippo type B. This patient's genotype was found to be homozygous for a novel pathogenic allelic variant in the NAGLU gene. Mendelian segregation of the mutation in the family was demonstrated.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Sanfilippo B]]></kwd>
<kwd lng="es"><![CDATA[mucopolisacaridosis IIIB]]></kwd>
<kwd lng="es"><![CDATA[gen NAGLU]]></kwd>
<kwd lng="es"><![CDATA[N-acetil &#945;D- glucosaminidasa]]></kwd>
<kwd lng="en"><![CDATA[Sanfilippo Syndrome type B]]></kwd>
<kwd lng="en"><![CDATA[Mucopolysaccharidosis IIIB]]></kwd>
<kwd lng="en"><![CDATA[NAGLU gene]]></kwd>
<kwd lng="en"><![CDATA[alpha-N-acetylglucosaminidase]]></kwd>
</kwd-group>
</article-meta>
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