<?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>1665-1146</journal-id>
<journal-title><![CDATA[Boletín médico del Hospital Infantil de México]]></journal-title>
<abbrev-journal-title><![CDATA[Bol. Med. Hosp. Infant. Mex.]]></abbrev-journal-title>
<issn>1665-1146</issn>
<publisher>
<publisher-name><![CDATA[Instituto Nacional de Salud, Hospital Infantil de México Federico Gómez]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1665-11462026000200125</article-id>
<article-id pub-id-type="doi">10.24875/bmhim.25000019</article-id>
<title-group>
<article-title xml:lang="en"><![CDATA[Angelman syndrome with atypical presentation mimicking cerebral palsy: diagnosis and treatment challenges]]></article-title>
<article-title xml:lang="es"><![CDATA[Síndrome de Angelman con presentación atípica imitando parálisis cerebral: desafíos en el diagnóstico y tratamiento]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Graça]]></surname>
<given-names><![CDATA[Natã N.J.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Duarte]]></surname>
<given-names><![CDATA[Márcio L.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Fernández-Cascardi]]></surname>
<given-names><![CDATA[Márcia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidade do Oeste Paulista Department of Internal Medicine ]]></institution>
<addr-line><![CDATA[Guarujá ]]></addr-line>
<country>Brazil</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidade de Ribeirão Preto Department of Radiology ]]></institution>
<addr-line><![CDATA[Guarujá ]]></addr-line>
<country>Brazil</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Diagnósticos da América S.A. Department of Radiology ]]></institution>
<addr-line><![CDATA[São Paulo ]]></addr-line>
<country>Brazil</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Clínica Neurosantos Department of Pediatric Neurology ]]></institution>
<addr-line><![CDATA[Santos ]]></addr-line>
<country>Brazil</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>04</month>
<year>2026</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>04</month>
<year>2026</year>
</pub-date>
<volume>83</volume>
<numero>2</numero>
<fpage>125</fpage>
<lpage>129</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_arttext&amp;pid=S1665-11462026000200125&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_abstract&amp;pid=S1665-11462026000200125&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_pdf&amp;pid=S1665-11462026000200125&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  Background: Angelman syndrome (AS) is a rare genetic disorder caused by the lack of expression of the UBE3A gene, inherited maternally, and is associated with an abnormal chromosome 15q11-q13. Affects 1 in 12,000-20,000 individuals and is more commonly diagnosed in childhood, although some cases are missed in adulthood. This condition, which affects both genders equally, often is undiagnosed due to errors or underreporting. This case involves a patient with AS, initially misdiagnosed as cerebral palsy, presenting with severe developmental delay, autistic behaviors, hypotonia, and epilepsy.  Clinical case: We describe the case of a 3-year and 10-month-old male patient with a family history of autism spectrum disorder and attention deficit hyperactivity presented with motor delay, severe hypotonia, brachycephaly, absence of trunk control, difficult-to-control epilepsy, and severe developmental delay (unable to walk or speak). Initial observations revealed he could not sit or crawl and had difficulty swallowing. He was prescribed risperidone and had follow-ups for ongoing issues. In 2022, he experienced a tonic-clonic seizure and was diagnosed with chronic non-progressive encephalopathy and epilepsy, leading to valproic acid treatment. Subsequent seizures led to adjustments in his medication regimen, including adding clonazepam, phenobarbital, and levetiracetam. Genetic testing confirmed a deletion in the Prader-Willi/AS critical region on chromosome 15. The patient is currently stable.  Conclusions: AS is characterized by developmental delays, speech impairment, ataxia, and seizures, along with characteristic behaviors such as inappropriate laughter. The comorbidities associated with AS, such as seizures and ataxia, significantly increase the risk of injuries and accidents, leading to higher morbidity and mortality in patients.]]></p></abstract>
<abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen  Introducción: El síndrome de Angelman (SA) es un trastorno genético raro causado por la falta de expresión del gen UBE3A, heredado de forma materna, y asociado con una anomalía en el cromosoma 15q11-q13. Su prevalencia varía en 1 de 12,000 a 20,000 individuos y es más común en la infancia, aunque algunos casos no se diagnostican incluso en la adultez. Afecta por igual al sexo femenino y al masculino, y muchos casos permanecen sin diagnóstico debido a errores o subregistro. El presente caso involucra a un paciente con SA, inicialmente diagnosticado erróneamente como parálisis cerebral, que presenta un retraso grave en el desarrollo, comportamientos autistas, hipotonía y epilepsia.  Caso clínico: Se trata de un paciente de sexo masculino de 3 años y 10 meses, con antecedentes familiares de trastorno del espectro autista y trastorno por déficit de atención e hiperactividad que presentaba retraso motor, hipotonía grave, braquicefalia, falta de control del tronco, epilepsia de difícil control y retraso grave en el desarrollo (incapaz de caminar o hablar). Las observaciones iniciales revelaron que no podía sentarse ni gatear y presentaba dificultades para deglutir. Se le recetó risperidona y se programaron seguimientos para problemas continuos. En 2022 experimentó una convulsión tónico-clónica y se le diagnosticó encefalopatía crónica no progresiva y epilepsia, lo que llevó al tratamiento con ácido valproico. Las convulsiones posteriores provocaron ajustes en su tratamiento, incluyendo la adición de clonazepam, fenobarbital y levetiracetam. Las pruebas genéticas confirmaron una deleción en la región crítica del síndrome de Prader-Willi/Angelman en el cromosoma 15. Actualmente, el paciente se encuentra estable.  Conclusiones: El síndrome de Angelman se caracteriza por retrasos en el desarrollo psicomotor, discapacidad del habla, ataxia y convulsiones, además de comportamientos característicos como risas inapropiadas. Las comorbilidades asociadas, como las convulsiones y la ataxia, incrementan significativamente el riesgo de lesiones y accidentes, lo que eleva la morbilidad y mortalidad de los pacientes.]]></p></abstract>
<kwd-group>
<kwd lng="en"><![CDATA[Angelman syndrome]]></kwd>
<kwd lng="en"><![CDATA[Seizures]]></kwd>
<kwd lng="en"><![CDATA[Ataxia]]></kwd>
<kwd lng="en"><![CDATA[Epilepsy]]></kwd>
<kwd lng="es"><![CDATA[Síndrome de Angelman]]></kwd>
<kwd lng="es"><![CDATA[Convulsión]]></kwd>
<kwd lng="es"><![CDATA[Ataxia]]></kwd>
<kwd lng="es"><![CDATA[Epilepsia]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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