<?xml version="1.0"?>
<Articles JournalTitle="Case Reports in Clinical Practice">
  <Article>
    <Journal>
      <PublisherName>Tehran University of Medical Sciences</PublisherName>
      <JournalTitle>Case Reports in Clinical Practice</JournalTitle>
      <Issn>2538-2683</Issn>
      <Volume>8</Volume>
      <Issue>2</Issue>
      <PubDate PubStatus="epublish">
        <Year>2023</Year>
        <Month>11</Month>
        <Day>18</Day>
      </PubDate>
    </Journal>
    <title locale="en_US">Infantile Metachromatic Leukodystrophy: Case Report</title>
    <FirstPage>68</FirstPage>
    <LastPage>71</LastPage>
    <AuthorList>
      <Author>
        <FirstName>Salsabeel</FirstName>
        <LastName>Hamad</LastName>
        <affiliation locale="en_US">Faculty of Medicine, Palestine Polytechnic University, Hebron, Palestine.</affiliation>
      </Author>
      <Author>
        <FirstName>Israa</FirstName>
        <LastName>Abufara</LastName>
        <affiliation locale="en_US">Faculty of Medicine, Palestine Polytechnic University, Hebron, Palestine.</affiliation>
      </Author>
      <Author>
        <FirstName>Safaa</FirstName>
        <LastName>Zagharneh</LastName>
        <affiliation locale="en_US">Faculty of Medicine, Palestine Polytechnic University, Hebron, Palestine.</affiliation>
      </Author>
      <Author>
        <FirstName>Taimaa</FirstName>
        <LastName>Abureesh</LastName>
        <affiliation locale="en_US">Faculty of Medicine, Palestine Polytechnic University, Hebron, Palestine.</affiliation>
      </Author>
      <Author>
        <FirstName>Afnan</FirstName>
        <LastName>Jobran</LastName>
        <affiliation locale="en_US">Faculty of Medicine, Al-Quds University, Jerusalem, Palestine.</affiliation>
      </Author>
    </AuthorList>
    <History>
      <PubDate PubStatus="received">
        <Year>2023</Year>
        <Month>08</Month>
        <Day>09</Day>
      </PubDate>
      <PubDate PubStatus="accepted">
        <Year>2023</Year>
        <Month>08</Month>
        <Day>16</Day>
      </PubDate>
    </History>
    <abstract locale="en_US">Metachromatic Leukodystrophy (MLD) is commonly characterized by the accumulation of sulfatide in various organs, including the central nervous system, leading to neurological and mental symptoms. We reported a case of a two-year-old male patient with psychomotor retardation history, developmental delay, poor overall performance and imaging findings compatible with Leukodystrophy are presented. The goal of this case report is to identify clinical presentation and typical MRI features to diagnose MLD, in the absence of an enzyme assay or a gene mutation investigation.</abstract>
    <web_url>https://crcp.tums.ac.ir/index.php/crcp/article/view/857</web_url>
  </Article>
</Articles>
