<?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>2341-4545</journal-id>
<journal-title><![CDATA[GE-Portuguese Journal of Gastroenterology]]></journal-title>
<abbrev-journal-title><![CDATA[GE Port J Gastroenterol]]></abbrev-journal-title>
<issn>2341-4545</issn>
<publisher>
<publisher-name><![CDATA[Sociedade Portuguesa de Gastrenterologia]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S2341-45452022000400062</article-id>
<article-id pub-id-type="doi">10.1159/000517103</article-id>
<title-group>
<article-title xml:lang="en"><![CDATA[Dorfman-Chanarin Syndrome: A Rare Cause of Metabolic Associated Fatty Liver Disease Related to Homozygosity of the Nonsense Mutation c.934C&gt;T (p.R312*)]]></article-title>
<article-title xml:lang="pt"><![CDATA[Síndrome de Dorfman-Chanarin: uma causa rara de doença hepática gorda dismetabólica associada a homozigotia da mutação nonsense c.934C&gt;T (p.R312*)]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Costa]]></surname>
<given-names><![CDATA[Rita Quelhas da]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Laranjeira]]></surname>
<given-names><![CDATA[Francisco]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ribeiro]]></surname>
<given-names><![CDATA[Isaura Duarte]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Santos]]></surname>
<given-names><![CDATA[António Filipe]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Nery]]></surname>
<given-names><![CDATA[Filipe]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
<xref ref-type="aff" rid="A a"/>
<xref ref-type="aff" rid="A7"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Centro Hospitalar Universitário do Porto Serviço de Medicina ]]></institution>
<addr-line><![CDATA[Porto ]]></addr-line>
<country>Portugal</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Centro Hospitalar Universitário do Porto Centro de Genética Médica Doutor Jacinto Magalhães Unidade de Bioquímica Genética]]></institution>
<addr-line><![CDATA[Porto ]]></addr-line>
<country>Portugal</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar Unidade Multidisciplinar de Investigação Biomédica]]></institution>
<addr-line><![CDATA[Porto ]]></addr-line>
<country>Portugal</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Centro Hospitalar Universitário do Porto Serviço de Hematologia Laboratorial ]]></institution>
<addr-line><![CDATA[Porto ]]></addr-line>
<country>Portugal</country>
</aff>
<aff id="Af5">
<institution><![CDATA[,Centro Hospitalar Universitário do Porto Unidade de Cuidados Intermédios Médico-Cirúrgica Serviço de Cuidados Intensivos]]></institution>
<addr-line><![CDATA[Porto ]]></addr-line>
<country>Portugal</country>
</aff>
<aff id="Af6">
<institution><![CDATA[,Universidade do Porto EpiUnit, Instituto de Saúde Pública ]]></institution>
<addr-line><![CDATA[Porto ]]></addr-line>
<country>Portugal</country>
</aff>
<aff id="Af7">
<institution><![CDATA[,Universidade do Porto Instituto de Ciências Biomédicas de Abel Salazar ]]></institution>
<addr-line><![CDATA[Porto ]]></addr-line>
<country>Portugal</country>
</aff>
<pub-date pub-type="pub">
<day>30</day>
<month>08</month>
<year>2022</year>
</pub-date>
<pub-date pub-type="epub">
<day>30</day>
<month>08</month>
<year>2022</year>
</pub-date>
<volume>29</volume>
<numero>4</numero>
<fpage>62</fpage>
<lpage>68</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_arttext&amp;pid=S2341-45452022000400062&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_abstract&amp;pid=S2341-45452022000400062&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_pdf&amp;pid=S2341-45452022000400062&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract Metabolic associated fatty liver disease became the most common form of chronic liver disease, in the vast majority of the cases related to increased insulin resistance or metabolic dysregulation. Yet, other causes may be implied. We report the late diagnosis of Dorfman-Chanarin syndrome in a non-alcoholic steatohepatitis previously labeled cirrhotic middle-aged man, with consanguineous parents, complicated with hepatocellular carcinoma. Congenital ichthyosis, neurosensory hearing loss and elevated muscular enzymes hit on the track of Dorfman-Chanarin syndrome. The genetic analysis uncovered a first-time described homozygotic nonsense mutation in theABHD5gene, responsible for coding the ABHD5 protein. The patient was successfully submitted to liver transplantation. Inborn errors of metabolism are a rare cause of metabolic associated fatty liver disease, but they need to be kept in consideration in all patients who present with atypical clinical features. This shall raise the awareness of physicians to rare forms of presentation since it may imply not only a different prognosis, but also other actions, like particular therapies as liver transplantation due to related complications of cirrhosis, or familial screening.]]></p></abstract>
<abstract abstract-type="short" xml:lang="pt"><p><![CDATA[Resumo A doença hepática gorda dismetabólica tornou-se a forma mais comum de doença hepática crónica, estando mais vezes relacionada com o aumento da insulinorresistência ou desregulação metabólica. Contudo, outras causas podem estar também implicadas. Apresentamos o caso clínico de um doente com um diagnóstico de síndrome de Dorfman-Chanarin estabelecido tardiamente num homem de meia-idade com um diagnóstico prévio de cirrose associada a esteatohepatite não alcoólica, com pais consanguíneos, e complicada de carcinoma hepatocelular. A presença de ictiose congénita, a perda de audição neurosensorial, e a elevação de enzimas musculares, colocaram na pista de diagnóstico de síndrome de Dorfman-Chanarin. O estudo genético demonstrou a presença de uma mutação nonsense descrita pela primeira vez em homozigotia no geneABHD5, responsável pela codificação da proteína ABHD5. O doente foi submetido a transplante hepático com sucesso. Os erros inatos do metabolismo são uma causa rara de doença hepática gorda, mas necessitam de ser tidos em consideração em todos os doentes que se apresentem com características clínicas atípicas. Isto deve aumentar a consciencialização dos médicos para formas raras de apresentação, uma vez que pode implicar não apenas um prognóstico diferente, mas também outras ações, como o transplante hepático por complicações associadas à cirrose, ou despiste familiar.]]></p></abstract>
<kwd-group>
<kwd lng="en"><![CDATA[Dorfman-Chanarin syndrome]]></kwd>
<kwd lng="en"><![CDATA[Inborn errors of metabolism]]></kwd>
<kwd lng="en"><![CDATA[Metabolic associated fatty liver disease]]></kwd>
<kwd lng="en"><![CDATA[Liver transplantation]]></kwd>
<kwd lng="pt"><![CDATA[Síndrome de Dorfman-Chanarin]]></kwd>
<kwd lng="pt"><![CDATA[Erros do metabolismo]]></kwd>
<kwd lng="pt"><![CDATA[Fígado gordo]]></kwd>
<kwd lng="pt"><![CDATA[Transplante hepático]]></kwd>
</kwd-group>
</article-meta>
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