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  <front>
    <journal-meta>
      <journal-id journal-id-type="publisher-id">JPSIM</journal-id>
      <journal-title-group>
        <journal-title>Journal of Pakistan Society of Internal Medicine</journal-title>
        <abbrev-title>J Pak Soc Intern Med</abbrev-title>
      </journal-title-group>
      <issn publication-format="print">2709-8729</issn>
      <issn publication-format="electronic">2710-0804</issn>
      <publisher>
        <publisher-name>Pakistan Society of Internal Medicine</publisher-name>
      </publisher>
    </journal-meta>
    <article-meta>
      <article-id pub-id-type="doi">10.70302/jpsim.v5i1.2418</article-id>
      <article-id pub-id-type="publisher-id">jpsim.v5i1.2418</article-id>
      <article-categories>
        <subj-group subj-group-type="heading">
          <subject>Case Report</subject>
        </subj-group>
      </article-categories>
      <title-group>
        <article-title>Hallervorden Spatz Disease: A Rare Case with Classical Disease Presentation in a 9 Year Old Girl</article-title>
      </title-group>
      <contrib-group>
        <contrib contrib-type="author" corresp="yes">
          <name>
            <surname>Shabir</surname>
            <given-names>Sadia</given-names>
          </name>
          <email>drsadiashabir@gmail.com</email>
          <xref ref-type="aff" rid="aff1"/>
          <xref ref-type="corresp" rid="cor1">*</xref>
        </contrib>
        <contrib contrib-type="author">
          <name>
            <surname>Arshad</surname>
            <given-names>Navaira</given-names>
          </name>
          <xref ref-type="aff" rid="aff1"/>
        </contrib>
        <contrib contrib-type="author">
          <name>
            <surname>Hamid</surname>
            <given-names>Muhammad Haroon</given-names>
          </name>
          <xref ref-type="aff" rid="aff1"/>
        </contrib>
      </contrib-group>
      <aff id="aff1">
        <institution>Mayo Hospital Lahore</institution>
      </aff>
      <author-notes>
        <corresp id="cor1">*Correspondence: Sadia Shabir (drsadiashabir@gmail.com)</corresp>
      </author-notes>
      <pub-date date-type="pub" publication-format="electronic" iso-8601-date="2024-02-28">
        <day>28</day>
        <month>02</month>
        <year>2024</year>
      </pub-date>
      <pub-date date-type="collection" publication-format="electronic">
        <year>2024</year>
      </pub-date>
      <volume>5</volume>
      <issue>1</issue>
      <fpage>438</fpage>
      <lpage>440</lpage>
      <history>
        <date date-type="received" iso-8601-date="2023-10-17">
          <day>17</day>
          <month>10</month>
          <year>2023</year>
        </date>
        <date date-type="accepted" iso-8601-date="2023-12-11">
          <day>11</day>
          <month>12</month>
          <year>2023</year>
        </date>
      </history>
      <permissions>
        <copyright-statement>Copyright © 2024 The Author(s)</copyright-statement>
        <copyright-year>2024</copyright-year>
        <copyright-holder>The Author(s)</copyright-holder>
        <ali:free_to_read xmlns:ali="http://www.niso.org/schemas/ali/1.0/"/>
        <license license-type="open-access" xlink:href="https://creativecommons.org/licenses/by/4.0/">
          <ali:license_ref xmlns:ali="http://www.niso.org/schemas/ali/1.0/">https://creativecommons.org/licenses/by/4.0/</ali:license_ref>
          <license-p>This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.</license-p>
        </license>
      </permissions>
      <self-uri xlink:href="https://psimj.com/article/jpsim.v5i1.2418" content-type="text/html"/>
      <self-uri xlink:href="https://psimj.com/article/jpsim.v5i1.2418.pdf" content-type="application/pdf"/>
      <abstract>
        <p>Hallervorden-spatz disease, now known as pantothenate kinase-associated neurodegeneration PKAN disease comes under the umbrella of new term neurodegeneration with brain iron accumulation (NBIA). Classically it affects children in adolescent age.Clinicalfeaturesrange fromsevere extrapyramidal effectslike dystonia and athetosisto psychiatric disturbances. Some patientsmay develop eye involvementin the formofretinitis pigmentosa.Diagnosisis usually clinical and supported by MRIfindings oftiger-eyes appearance of basal ganglia.Available treatmentis only symptomatic not curative.In thisreport we have discussed the classical presentation of hallervorden spatz disease in a 9 year old girl who was diagnosed on the basis of clinical findings, eye changes along with MRI findings.</p>
      </abstract>
    </article-meta>
  </front>
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  <back>
    <ref-list>
      <title>References</title>
      <ref id="ref1">
        <label>1</label>
        <mixed-citation>Dashti M, Chitsaz A. Hallervorden-Spatz disease. Adv Biomed Res 2014;3(1):191</mixed-citation>
      </ref>
      <ref id="ref2">
        <label>2</label>
        <mixed-citation>Kliegman, R. (2020). Nelson textbook of pediatrics. 21st Ed. Philadelphia, PA: Elsevier.</mixed-citation>
      </ref>
      <ref id="ref3">
        <label>3</label>
        <mixed-citation>Cooper GE, Rizzo M, Jones RD. Adult-onset Hallervorden-Spatz syndrome presenting as cortical dementia. Alzheimer Dis Assoc Disord. 2000;14(2): 120-6</mixed-citation>
      </ref>
      <ref id="ref4">
        <label>4</label>
        <mixed-citation>Gothwal S, Nayan S. Hallervorden–Spatz Syndrome with Seizure. Basic Clin Neurosci. 2016;7(2): 165-6.</mixed-citation>
      </ref>
      <ref id="ref5">
        <label>5</label>
        <mixed-citation>Gordon N. Pantothenate kinase-associated neuro degeneration (Hallervorden-Spatz syndrome. Eur J Paediatr Neurol. 2002; 6(5):243-7</mixed-citation>
      </ref>
      <ref id="ref6">
        <label>6</label>
        <mixed-citation>Zhou B, Westaway SK, Levinson B, Johnson MA, Gitschier J, Hayflick SJ. A novel pantothenate kinase gene is defective in Hallervorden-Spatz syndrome. Nature Genet. 2001;28(4): 345–349.</mixed-citation>
      </ref>
      <ref id="ref7">
        <label>7</label>
        <mixed-citation>Gregory A, Hayflick S. Neurodegeneration with Brain Iron Accumulation Disorders Overview. GeneReviews® . [Last Update: October 21, 2019]. Available from: [https://www.ncbi.nlm.nih.gov/sites/books/NBK121988/]</mixed-citation>
      </ref>
      <ref id="ref8">
        <label>8</label>
        <mixed-citation>Anam A, Arsalan A, Khan EA. Hallervorden spatz disease – a rare clinicoradiological diagnosis. Pak J Neurol Sci. 2014;9(2):29-31.</mixed-citation>
      </ref>
      <ref id="ref9">
        <label>9</label>
        <mixed-citation>Bokhari MR, Zulfiqar H, Bokhari SRA. Hallervorden Spatz Disease. [Updated 2022 Jan 7]. In: StatPearls. Treasure Island (FL): StatPearls Publishing; 2022. Available from:https://www.ncbi.nlm.nih.gov/books/NBK430689/?msclkid=5650ecf5d0eb11ecbf38e0e10ad6a6b1</mixed-citation>
      </ref>
      <ref id="ref10">
        <label>10</label>
        <mixed-citation>Sultan T, Malik MA, Ahmad TM. Hallervorden Spatz disease is it a rare cause of neurodegeneration? Pak Paed J. 2008; 32(1):55-7.</mixed-citation>
      </ref>
    </ref-list>
  </back>
</article>
