<?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>0120-0011</journal-id>
<journal-title><![CDATA[Revista de la Facultad de Medicina]]></journal-title>
<abbrev-journal-title><![CDATA[rev.fac.med.]]></abbrev-journal-title>
<issn>0120-0011</issn>
<publisher>
<publisher-name><![CDATA[Universidad Nacional de Colombia]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0120-00112022000400500</article-id>
<article-id pub-id-type="doi">10.15446/revfacmed.v70n4.93016</article-id>
<title-group>
<article-title xml:lang="en"><![CDATA[Persistent neonatal hypoglycemia secondary to hyperinsulinism/hyperammonemia. Case report]]></article-title>
<article-title xml:lang="es"><![CDATA[Hipoglucemia neonatal persistente secundaria a hiperinsulinismo/hiperamonemia. Reporte de caso]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Mendoza-Rojas]]></surname>
<given-names><![CDATA[Víctor Clemente]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Santos-Aguilar]]></surname>
<given-names><![CDATA[Jesús Daniel]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Martínez-Tarifa]]></surname>
<given-names><![CDATA[Iván Emilio]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Hospital Universitario de Santander Department of Pediatrics ]]></institution>
<addr-line><![CDATA[Bucaramanga ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidad Industrial de Santander Faculty of Medicine Department of Pediatrics]]></institution>
<addr-line><![CDATA[Bucaramanga Santander]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Universidad del Magdalena Faculty of Health Sciences ]]></institution>
<addr-line><![CDATA[Santa Marta Magdalena]]></addr-line>
<country>Colombia</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>70</volume>
<numero>4</numero>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_arttext&amp;pid=S0120-00112022000400500&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_abstract&amp;pid=S0120-00112022000400500&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_pdf&amp;pid=S0120-00112022000400500&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  Introduction: Hyperinsulinism/hyperammonemia syndrome (HI/HA) is a rare genetic disease caused by the activation of mutations in the GLUD1 gene. It is characterized by recurrent symptomatic hypoglycemic episodes, poor tolerance to fasting, and requirement for high metabolic fluxes of glucose, with an insulin/ glucose ratio &#8805;0.3.  Case presentation: Preterm male newborn (36 2/7 weeks of gestation) who was delivered by caesarean section due to acute fetal distress. At birth, the patient presented with weak cry, hypotonia, mild respiratory distress, and recurrent episodes of hypoglycemia, thus 10% dextrose and hydrocortisone were administered initially. Treatment with octeoctride was started, but due to the patient's poor response, laboratory tests were performed, reporting the following findings: serum ammonia: 137.6, insulin: 39.1 µIU/mL, blood glucose: 26.06 mg/dL, and insulin/blood glucose ratio: 1.5, leading to the diagnosis of HI/HA syndrome. Treatment with diazoxide was initiated, achieving a progressive improvement in blood glucose levels; however, afterwards, he presented seizures, so midazolam, phenobarbital and valproic acid were added to the treatment regimen. When hypoglycemia and seizure episodes resolved, the patient was discharged at 2 months and 5 days of life, and a treatment based on oral administration of diazoxide, phenobarbital and valproic acid was prescribed.  Conclusion: HI/HA syndrome is characterized by recurrent episodes of hypoglycemia and hyperammonemia; therefore, the presence of these two conditions in neonates is highly suggestive of the disease. Timely diagnosis and treatment are required to avoid neurological sequelae, and transdisciplinary assessment is of great importance, as it increases the likelihood of early diagnosis and timely administration of diazoxide to restore normal glucose levels.]]></p></abstract>
<abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen  Introducción. El síndrome hiperinsulinismo/hiperamoniemia (HI/HA) es una enfermedad genética rara causada por la activación de mutaciones en el gen GLUD1. Este síndrome se caracteriza por hipoglucemias sintomáticas recurrentes, poca tolerancia al ayuno y requerimiento de altos flujos metabólicos de glucosa, con un índice insulina/glucosa &#8805;0.3.  Presentación del caso. Recién nacido masculino pretérmino de 36 2/7 semanas de gestación que nació por cesárea debido a sufrimiento fetal agudo. Al nacer, el paciente presentó llanto débil, hipotonia, dificultad respiratoria leve y episodios recurrentes de hipoglicemia, por lo que inicialmente se administró dextrosa 10% e hidrocortisona. Se inició tratamiento con octeoctride, pero ante la pobre respuesta, se realizaron exámenes de laboratorio en los que se reportó lo siguiente: amonio sérico: 137.6 pmol/L, insulina: 39.1 µUl/mL, glucemia: 26.06 mg/dL y relación insulina/glucemia: 1.5, lo que permitió diagnosticarlo con síndrome HI/HA. Se inició tratamiento con diazóxido, lográndose mejora progresiva de la glicemia; pero posteriormente presentó crisis convulsivas, por lo que se agregó midazolam, fenobarbital y ácido valproico al tratamiento. Al resolver la hipoglicemia y las convulsiones, el paciente fue dado de alta a los 2 meses y 5 días de vida, prescribiéndose un tratamiento basado en la administración oral de diazóxido, fenobarbital y ácido valproico.  Conclusión. El síndrome HI/HA se caracteriza por hipoglucemias recurrentes e hiperamoniemia; por tanto, la presencia de estas dos condiciones en neonatos es altamente sugestiva de la enfermedad. Su diagnóstico y tratamiento deben ser oportunos para evitar secuelas neurológicas, siendo la valoración transdisciplinaria de gran importancia, pues aumenta las probabilidades de un diagnóstico temprano y administración oportuna de diazóxido para restablecer los niveles normales de glucosa.]]></p></abstract>
<kwd-group>
<kwd lng="en"><![CDATA[Congenital Hyperinsulinism]]></kwd>
<kwd lng="en"><![CDATA[Hyperammonemia]]></kwd>
<kwd lng="en"><![CDATA[Seizures]]></kwd>
<kwd lng="en"><![CDATA[Diazoxide (MeSH)]]></kwd>
<kwd lng="es"><![CDATA[Hiperinsulinismo congénito]]></kwd>
<kwd lng="es"><![CDATA[Hiperamonemia]]></kwd>
<kwd lng="es"><![CDATA[Convulsión]]></kwd>
<kwd lng="es"><![CDATA[Diazóxido (DeCS)]]></kwd>
</kwd-group>
</article-meta>
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