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<meta name="DC.Title" content="Biotin-Responsive Basal Ganglia Disease: Neuroimaging Features before and after Treatment" />
<meta name="DC.Identifier" content="10.3174/ajnr.A3966" />
<meta name="DC.Date" content="2014-10-01" />
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<meta name="DC.Description" content="BACKGROUND AND PURPOSE: Biotin-responsive basal ganglia disease is an autosomal recessive neurometabolic disorder presenting with subacute encephalopathy that can cause death if left untreated. The purpose of this study is to assess the neuroimaging and clinical features of the disease before and after treatment with biotin.

MATERIALS AND METHODS: We retrospectively reviewed the clinical, laboratory, and neuroimaging features of 15 genetically-proved Middle Eastern cases of biotin-responsive basal ganglia disease. Brain MR imaging was done at the onset of symptoms in all cases and within 2–8 weeks after biotin and thiamine therapy in 14 patients. The MR imaging datasets were analyzed according to lesion location, extent, and distribution.

RESULTS: Brain MR imaging showed bilateral lesions in the caudate nuclei with complete or partial involvement of the putamen and sparing of the globus pallidus in all cases. In 80%, discrete abnormal signals were observed in the mesencephalon, cerebral cortical-subcortical regions, and thalami. In 53%, when the disease was advanced, patchy deep white matter affection was found. The cerebellum was involved in 13.3%. The signal abnormality of the mesencephalon, cortex, and white matter disappeared after treatment whereas the caudate and putamen necrosis persisted in all patients, including those who became asymptomatic.

CONCLUSIONS: Biotin-responsive basal ganglia disease is a treatable underdiagnosed disease. It should be suspected in pediatric patients with unexplained encephalopathy whose brain MR imaging shows bilateral and symmetric lesions in the caudate heads and putamen, with or without involvement of mesencephalon, thalami, and cortical-subcortical regions, as the therapeutic trial of biotin and thiamine can be lifesaving.

BBGD
:   biotin-responsive basal ganglia disease
MELAS
:   mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes
MERRF
:   myoclonic epilepsy associated with ragged red fibers
WE
:   Wernicke encephalopathy" />
<meta name="DC.Contributor" content="H. Kassem" />
<meta name="DC.Contributor" content="A. Wafaie" />
<meta name="DC.Contributor" content="S. Alsuhibani" />
<meta name="DC.Contributor" content="T. Farid" />
<meta name="article:published_time" content="2014-10-01" />
<meta name="article:section" content="Pediatrics" />
<meta name="citation_title" content="Biotin-Responsive Basal Ganglia Disease: Neuroimaging Features before and after Treatment" />
<meta name="citation_abstract" lang="en" content="&lt;h3&gt;BACKGROUND AND PURPOSE:&lt;/h3&gt;
&lt;p&gt;Biotin-responsive basal ganglia disease is an autosomal recessive neurometabolic disorder presenting with subacute encephalopathy that can cause death if left untreated. The purpose of this study is to assess the neuroimaging and clinical features of the disease before and after treatment with biotin.&lt;/p&gt;&lt;h3&gt;MATERIALS AND METHODS:&lt;/h3&gt;
&lt;p&gt;We retrospectively reviewed the clinical, laboratory, and neuroimaging features of 15 genetically-proved Middle Eastern cases of biotin-responsive basal ganglia disease. Brain MR imaging was done at the onset of symptoms in all cases and within 2–8 weeks after biotin and thiamine therapy in 14 patients. The MR imaging datasets were analyzed according to lesion location, extent, and distribution.&lt;/p&gt;&lt;h3&gt;RESULTS:&lt;/h3&gt;
&lt;p&gt;Brain MR imaging showed bilateral lesions in the caudate nuclei with complete or partial involvement of the putamen and sparing of the globus pallidus in all cases. In 80%, discrete abnormal signals were observed in the mesencephalon, cerebral cortical-subcortical regions, and thalami. In 53%, when the disease was advanced, patchy deep white matter affection was found. The cerebellum was involved in 13.3%. The signal abnormality of the mesencephalon, cortex, and white matter disappeared after treatment whereas the caudate and putamen necrosis persisted in all patients, including those who became asymptomatic.&lt;/p&gt;&lt;h3&gt;CONCLUSIONS:&lt;/h3&gt;
&lt;p&gt;Biotin-responsive basal ganglia disease is a treatable underdiagnosed disease. It should be suspected in pediatric patients with unexplained encephalopathy whose brain MR imaging shows bilateral and symmetric lesions in the caudate heads and putamen, with or without involvement of mesencephalon, thalami, and cortical-subcortical regions, as the therapeutic trial of biotin and thiamine can be lifesaving.&lt;/p&gt;" />
<meta name="citation_journal_title" content="American Journal of Neuroradiology" />
<meta name="citation_publisher" content="American Journal of Neuroradiology" />
<meta name="citation_publication_date" content="2014/10/01" />
<meta name="citation_mjid" content="ajnr;35/10/1990" />
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<meta name="citation_volume" content="35" />
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<meta name="citation_article_type" content="Research Article" />
<meta name="citation_section" content="Pediatrics" />
<meta name="citation_firstpage" content="1990" />
<meta name="citation_lastpage" content="1995" />
<meta name="citation_author" content="H. Kassem" />
<meta name="citation_author_institution" content="aFrom the Department of Radiology (H.K.), Benha University, Benha, Egypt" />
<meta name="citation_author_institution" content="bDepartment of Radiology (H.K.), Prince Sultan Military Medical City, Riyadh, Saudi Arabia" />
<meta name="citation_author" content="A. Wafaie" />
<meta name="citation_author_institution" content="cDepartment of Radiology (A.W.), Cairo University, Cairo, Egypt" />
<meta name="citation_author" content="S. Alsuhibani" />
<meta name="citation_author_institution" content="dUniversity of Dammam (S.A.), Dammam, Saudi Arabia" />
<meta name="citation_author" content="T. Farid" />
<meta name="citation_author_institution" content="ePediatric Department of the Egyptian National Research Center (T.F.), Giza, Egypt." />
<meta name="citation_reference" content="citation_journal_title=Brain;citation_journal_abbrev=Brain;citation_title=Biotin-responsive basal ganglia disease: a novel entity;citation_pages=1267-1279;citation_volume=121;citation_year=1998;citation_issue=7;citation_issn=0006-8950;citation_pmid=9679779;citation_doi=10.1093/brain/121.7.1267" />
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<meta name="twitter:title" content="Biotin-Responsive Basal Ganglia Disease: Neuroimaging Features before and after Treatment" />
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<meta name="twitter:description" content="BACKGROUND AND PURPOSE: Biotin-responsive basal ganglia disease is an autosomal recessive neurometabolic disorder presenting with subacute encephalopathy that can cause death if left untreated. The purpose of this study is to assess the neuroimaging and clinical features of the disease before and after treatment with biotin.

MATERIALS AND METHODS: We retrospectively reviewed the clinical, laboratory, and neuroimaging features of 15 genetically-proved Middle Eastern cases of biotin-responsive basal ganglia disease. Brain MR imaging was done at the onset of symptoms in all cases and within 2–8 weeks after biotin and thiamine therapy in 14 patients. The MR imaging datasets were analyzed according to lesion location, extent, and distribution.

RESULTS: Brain MR imaging showed bilateral lesions in the caudate nuclei with complete or partial involvement of the putamen and sparing of the globus pallidus in all cases. In 80%, discrete abnormal signals were observed in the mesencephalon, cerebral cortical-subcortical regions, and thalami. In 53%, when the disease was advanced, patchy deep white matter affection was found. The cerebellum was involved in 13.3%. The signal abnormality of the mesencephalon, cortex, and white matter disappeared after treatment whereas the caudate and putamen necrosis persisted in all patients, including those who became asymptomatic.

CONCLUSIONS: Biotin-responsive basal ganglia disease is a treatable underdiagnosed disease. It should be suspected in pediatric patients with unexplained encephalopathy whose brain MR imaging shows bilateral and symmetric lesions in the caudate heads and putamen, with or without involvement of mesencephalon, thalami, and cortical-subcortical regions, as the therapeutic trial of biotin and thiamine can be lifesaving.

BBGD
:   biotin-responsive basal ganglia disease
MELAS
:   mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes
MERRF
:   myoclonic epilepsy associated with ragged red fibers
WE
:   Wernicke encephalopathy" />
<meta name="og-title" property="og:title" content="Biotin-Responsive Basal Ganglia Disease: Neuroimaging Features before and after Treatment" />
<meta name="og-url" property="og:url" content="http://ajnr-stage2.stage.highwire.org/content/35/10/1990" />
<meta name="og-site-name" property="og:site_name" content="American Journal of Neuroradiology" />
<meta name="og-description" property="og:description" content="BACKGROUND AND PURPOSE: Biotin-responsive basal ganglia disease is an autosomal recessive neurometabolic disorder presenting with subacute encephalopathy that can cause death if left untreated. The purpose of this study is to assess the neuroimaging and clinical features of the disease before and after treatment with biotin.

MATERIALS AND METHODS: We retrospectively reviewed the clinical, laboratory, and neuroimaging features of 15 genetically-proved Middle Eastern cases of biotin-responsive basal ganglia disease. Brain MR imaging was done at the onset of symptoms in all cases and within 2–8 weeks after biotin and thiamine therapy in 14 patients. The MR imaging datasets were analyzed according to lesion location, extent, and distribution.

RESULTS: Brain MR imaging showed bilateral lesions in the caudate nuclei with complete or partial involvement of the putamen and sparing of the globus pallidus in all cases. In 80%, discrete abnormal signals were observed in the mesencephalon, cerebral cortical-subcortical regions, and thalami. In 53%, when the disease was advanced, patchy deep white matter affection was found. The cerebellum was involved in 13.3%. The signal abnormality of the mesencephalon, cortex, and white matter disappeared after treatment whereas the caudate and putamen necrosis persisted in all patients, including those who became asymptomatic.

CONCLUSIONS: Biotin-responsive basal ganglia disease is a treatable underdiagnosed disease. It should be suspected in pediatric patients with unexplained encephalopathy whose brain MR imaging shows bilateral and symmetric lesions in the caudate heads and putamen, with or without involvement of mesencephalon, thalami, and cortical-subcortical regions, as the therapeutic trial of biotin and thiamine can be lifesaving.

BBGD
:   biotin-responsive basal ganglia disease
MELAS
:   mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes
MERRF
:   myoclonic epilepsy associated with ragged red fibers
WE
:   Wernicke encephalopathy" />
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      <h1 class="highwire-cite-title" id="page-title">Biotin-Responsive Basal Ganglia Disease: Neuroimaging Features before and after Treatment</h1>  
    	<div class="highwire-cite-authors"><span  class="highwire-citation-authors"><span class="highwire-citation-author first" data-delta="0">H. Kassem</span>, <span class="highwire-citation-author" data-delta="1">A. Wafaie</span>, <span class="highwire-citation-author" data-delta="2">S. Alsuhibani</span> and <span class="highwire-citation-author" data-delta="3">T. Farid</span></span></div>
  
    	<div class="highwire-cite-metadata"><span  class="highwire-cite-metadata-journal highwire-cite-metadata">American Journal of Neuroradiology </span><span  class="highwire-cite-metadata-date highwire-cite-metadata">October 2014,  </span><span  class="highwire-cite-metadata-volume highwire-cite-metadata">35 </span><span  class="highwire-cite-metadata-issue highwire-cite-metadata">(10) </span><span  class="highwire-cite-metadata-pages highwire-cite-metadata">1990-1995; </span><span  class="highwire-cite-metadata-doi highwire-cite-metadata">DOI: https://doi.org/10.3174/ajnr.A3966 </span></div>
  
  
  
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<div id="hw-article-author-popups-top-node-13640--61407512702" style="display: none;"><div class="author-tooltip-0"><div class="author-tooltip-name">H. Kassem </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'><span class='nlm-sup'>a</span>From the Department of Radiology (H.K.), Benha University, Benha, Egypt</div><div class='author-affiliation'><span class='nlm-sup'>b</span>Department of Radiology (H.K.), Prince Sultan Military Medical City, Riyadh, Saudi Arabia</div></span></div><ul class="author-tooltip-find-more"><li class="author-tooltip-gs-link first"><a href="/lookup/google-scholar?link_type=googlescholar&amp;gs_type=author&amp;author%5B0%5D=H.%2BKassem%2B" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on Google Scholar</a></li><li class="author-tooltip-pubmed-link"><a href="/lookup/external-ref?access_num=Kassem%20H&amp;link_type=AUTHORSEARCH" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on PubMed</a></li><li class="author-site-search-link last"><a href="/search/author1%3AH.%2BKassem%2B" rel="nofollow" class="" data-icon-position="" data-hide-link-title="0">Search for this author on this site</a></li></ul></div><div class="author-tooltip-1"><div class="author-tooltip-name">A. Wafaie </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'><span class='nlm-sup'>c</span>Department of Radiology (A.W.), Cairo University, Cairo, Egypt</div></span></div><ul class="author-tooltip-find-more"><li class="author-tooltip-gs-link first"><a href="/lookup/google-scholar?link_type=googlescholar&amp;gs_type=author&amp;author%5B0%5D=A.%2BWafaie%2B" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on Google Scholar</a></li><li class="author-tooltip-pubmed-link"><a href="/lookup/external-ref?access_num=Wafaie%20A&amp;link_type=AUTHORSEARCH" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on PubMed</a></li><li class="author-site-search-link last"><a href="/search/author1%3AA.%2BWafaie%2B" rel="nofollow" class="" data-icon-position="" data-hide-link-title="0">Search for this author on this site</a></li></ul></div><div class="author-tooltip-2"><div class="author-tooltip-name">S. Alsuhibani </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'><span class='nlm-sup'>d</span>University of Dammam (S.A.), Dammam, Saudi Arabia</div></span></div><ul class="author-tooltip-find-more"><li class="author-tooltip-gs-link first"><a href="/lookup/google-scholar?link_type=googlescholar&amp;gs_type=author&amp;author%5B0%5D=S.%2BAlsuhibani%2B" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on Google Scholar</a></li><li class="author-tooltip-pubmed-link"><a href="/lookup/external-ref?access_num=Alsuhibani%20S&amp;link_type=AUTHORSEARCH" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on PubMed</a></li><li class="author-site-search-link last"><a href="/search/author1%3AS.%2BAlsuhibani%2B" rel="nofollow" class="" data-icon-position="" data-hide-link-title="0">Search for this author on this site</a></li></ul></div><div class="author-tooltip-3"><div class="author-tooltip-name">T. Farid </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'><span class='nlm-sup'>e</span>Pediatric Department of the Egyptian National Research Center (T.F.), Giza, Egypt.</div></span></div><ul class="author-tooltip-find-more"><li class="author-tooltip-gs-link first"><a href="/lookup/google-scholar?link_type=googlescholar&amp;gs_type=author&amp;author%5B0%5D=T.%2BFarid%2B" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on Google Scholar</a></li><li class="author-tooltip-pubmed-link"><a href="/lookup/external-ref?access_num=Farid%20T&amp;link_type=AUTHORSEARCH" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on PubMed</a></li><li class="author-site-search-link last"><a href="/search/author1%3AT.%2BFarid%2B" rel="nofollow" class="" data-icon-position="" data-hide-link-title="0">Search for this author on this site</a></li></ul></div></div></div>  </div>

  
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<p id="p-1"><strong>BACKGROUND AND PURPOSE:</strong> Biotin-responsive basal ganglia disease is an autosomal recessive neurometabolic disorder presenting with subacute encephalopathy that can cause death if left untreated. The purpose of this study is to assess the neuroimaging and clinical features of the disease before and after treatment with biotin.</p>
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<p id="p-2"><strong>MATERIALS AND METHODS:</strong> We retrospectively reviewed the clinical, laboratory, and neuroimaging features of 15 genetically-proved Middle Eastern cases of biotin-responsive basal ganglia disease. Brain MR imaging was done at the onset of symptoms in all cases and within 2–8 weeks after biotin and thiamine therapy in 14 patients. The MR imaging datasets were analyzed according to lesion location, extent, and distribution.</p>
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<p id="p-3"><strong>RESULTS:</strong> Brain MR imaging showed bilateral lesions in the caudate nuclei with complete or partial involvement of the putamen and sparing of the globus pallidus in all cases. In 80%, discrete abnormal signals were observed in the mesencephalon, cerebral cortical-subcortical regions, and thalami. In 53%, when the disease was advanced, patchy deep white matter affection was found. The cerebellum was involved in 13.3%. The signal abnormality of the mesencephalon, cortex, and white matter disappeared after treatment whereas the caudate and putamen necrosis persisted in all patients, including those who became asymptomatic.</p>
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<p id="p-4"><strong>CONCLUSIONS:</strong> Biotin-responsive basal ganglia disease is a treatable underdiagnosed disease. It should be suspected in pediatric patients with unexplained encephalopathy whose brain MR imaging shows bilateral and symmetric lesions in the caudate heads and putamen, with or without involvement of mesencephalon, thalami, and cortical-subcortical regions, as the therapeutic trial of biotin and thiamine can be lifesaving.</p>
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<h2>ABBREVIATIONS:</h2>
<dl id="def-list-1"><dt id="def-item-1">BBGD<span class="def-item-dt-sep"></span></dt><dd>biotin-responsive basal ganglia disease<span class="def-item-dd-sep"></span></dd><dt id="def-item-2">MELAS<span class="def-item-dt-sep"></span></dt><dd>mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes<span class="def-item-dd-sep"></span></dd><dt id="def-item-3">MERRF<span class="def-item-dt-sep"></span></dt><dd>myoclonic epilepsy associated with ragged red fibers<span class="def-item-dd-sep"></span></dd><dt id="def-item-4">WE<span class="def-item-dt-sep"></span></dt><dd>Wernicke encephalopathy</dd></dl></div><ul class="copyright-statement"><li class="fn" id="copyright-statement-1">© 2014 by American Journal of Neuroradiology</li></ul><span class="highwire-journal-article-marker-end"></span></div><span class="related-urls"></span></div><a href="http://ajnr-stage2.stage.highwire.org/content/35/10/1990.full" class="hw-link hw-link-article-full-text" data-icon-position="" data-hide-link-title="0">View Full Text</a></div>  </div>

  
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        	<div class="highwire-cite-metadata"><span  class="highwire-cite-metadata-volume highwire-cite-metadata">Vol. 35</span>, <span  class="highwire-cite-metadata-issue highwire-cite-metadata">Issue 10 </span><div  class="highwire-cite-metadata-pubdate highwire-cite-metadata">1 Oct 2014 </div></div>
      
      
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      <div class="highwire-cite-title">Biotin-Responsive Basal Ganglia Disease: Neuroimaging Features before and after Treatment</div>  
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