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Late-Onset Neurodegeneration with Brain Iron Accumulation with Diffusion Tensor Magnetic Resonance Imaging

Identifieur interne : 001B67 ( Pmc/Curation ); précédent : 001B66; suivant : 001B68

Late-Onset Neurodegeneration with Brain Iron Accumulation with Diffusion Tensor Magnetic Resonance Imaging

Auteurs : Syed Omar Shah [États-Unis] ; Hasit Mehta [États-Unis] ; Robert Fekete [États-Unis]

Source :

RBID : PMC:3531933

Abstract

Introduction

Neuroferritinopathy is an autosomal dominant neurodegenerative disorder that includes a movement disorder, cognitive decline, and characteristic findings on brain magnetic resonance imaging (MRI) due to abnormal iron deposition. Here, we present a late-onset case, along with diffusion tensor imaging (DTI).

Case Presentation

We report the case of a 74-year-old Caucasian female with no significant past medical history who presented for evaluation of orofacial dyskinesia, suspected to be edentulous dyskinesia given her history of ill-fitting dentures. She had also developed slowly progressive dysarthria, dysphagia, visual hallucinations as well as stereotypic movements of her hands and feet.

Results

The eye-of-the-tiger sign was demonstrated on T2 MRI. Increased fractional anisotropy and T2 hypointensity were observed in the periphery of the globus pallidus, putamen, substantia nigra, and dentate nucleus. T2 hyperintensity was present in the medial dentate nucleus and central globus pallidus.

Discussion

The pallidal MRI findings were more typical of pantothenate kinase-associated neurodegeneration (PKAN), but given additional dentate and putamenal involvement, lack of retinopathy, and advanced age of onset, PKAN was less likely. Although the patient's ferritin levels were within low normal range, her clinical and imaging features led to a diagnosis of neuroferritinopathy.

Conclusion

Neurodegeneration with brain iron accumulation (NBIA) is a rare cause of orofacial dyskinesia. DTI MRI can confirm abnormal iron deposition. The location of abnormal iron deposits helps in differentiating NBIA subtypes. Degeneration of the dentate and globus pallidus may occur via an analogous process given their similar T2 and DTI MRI appearance.


Url:
DOI: 10.1159/000345871
PubMed: 23275784
PubMed Central: 3531933

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PMC:3531933

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<title>Introduction</title>
<p>Neuroferritinopathy is an autosomal dominant neurodegenerative disorder that includes a movement disorder, cognitive decline, and characteristic findings on brain magnetic resonance imaging (MRI) due to abnormal iron deposition. Here, we present a late-onset case, along with diffusion tensor imaging (DTI).</p>
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<title>Case Presentation</title>
<p>We report the case of a 74-year-old Caucasian female with no significant past medical history who presented for evaluation of orofacial dyskinesia, suspected to be edentulous dyskinesia given her history of ill-fitting dentures. She had also developed slowly progressive dysarthria, dysphagia, visual hallucinations as well as stereotypic movements of her hands and feet.</p>
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<title>Results</title>
<p>The eye-of-the-tiger sign was demonstrated on T2 MRI. Increased fractional anisotropy and T2 hypointensity were observed in the periphery of the globus pallidus, putamen, substantia nigra, and dentate nucleus. T2 hyperintensity was present in the medial dentate nucleus and central globus pallidus.</p>
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<journal-id journal-id-type="nlm-ta">Case Rep Neurol</journal-id>
<journal-id journal-id-type="iso-abbrev">Case Rep Neurol</journal-id>
<journal-id journal-id-type="publisher-id">CRN</journal-id>
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<subject>Published online: December, 2012</subject>
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<article-title>Late-Onset Neurodegeneration with Brain Iron Accumulation with Diffusion Tensor Magnetic Resonance Imaging</article-title>
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<contrib-group>
<contrib contrib-type="author">
<name>
<surname>Shah</surname>
<given-names>Syed Omar</given-names>
</name>
<xref ref-type="aff" rid="aff1">
<sup>a</sup>
</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Mehta</surname>
<given-names>Hasit</given-names>
</name>
<xref ref-type="aff" rid="aff2">
<sup>b</sup>
</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Fekete</surname>
<given-names>Robert</given-names>
</name>
<xref ref-type="aff" rid="aff1">
<sup>a</sup>
</xref>
<xref ref-type="corresp" rid="cor1">*</xref>
</contrib>
</contrib-group>
<aff id="aff1">
<sup>a</sup>
Department of Neurology, New York Medical College, Valhalla, N.Y., USA</aff>
<aff id="aff2">
<sup>b</sup>
Department of Radiology, Westchester Medical Center, Valhalla, N.Y., USA</aff>
<author-notes>
<corresp id="cor1">*Assist. Prof., Dr. Robert Fekete Department of Neurology, New York Medical College, Munger Pavilion, 4th Floor, 40 Sunshine Cottage Road, Valhalla, NY 10595 (USA), E-Mail
<email>robertfekete@hotmail.com</email>
</corresp>
</author-notes>
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<year>2012</year>
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<pub-date pub-type="epub">
<day>5</day>
<month>12</month>
<year>2012</year>
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<pub-date pub-type="pmc-release">
<day>5</day>
<month>12</month>
<year>2012</year>
</pub-date>
<pmc-comment> PMC Release delay is 0 months and 0 days and was based on the . </pmc-comment>
<volume>4</volume>
<issue>3</issue>
<fpage>216</fpage>
<lpage>223</lpage>
<permissions>
<copyright-statement>Copyright © 2012 by S. Karger AG, Basel</copyright-statement>
<copyright-year>2012</copyright-year>
<license license-type="open-access" xlink:href="http://creativecommons.org/licenses/by-nc-nd/3.0/">
<license-p>
<pmc-comment>CREATIVE COMMONS</pmc-comment>
This is an Open Access article distributed under the terms of the Creative Commons Attribution-Noncommercial-No-Derivative-Works License (
<ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/licenses/by-nc-nd/3.0/">http://creativecommons.org/licenses/by-nc-nd/3.0/</ext-link>
). Users may download, print and share this work on the Internet for noncommercial purposes only, provided the original work is properly cited, and a link to the original work on
<ext-link ext-link-type="uri" xlink:href="http://www.karger.com">http://www.karger.com</ext-link>
and the terms of this license are included in any shared versions.</license-p>
</license>
</permissions>
<abstract>
<sec>
<title>Introduction</title>
<p>Neuroferritinopathy is an autosomal dominant neurodegenerative disorder that includes a movement disorder, cognitive decline, and characteristic findings on brain magnetic resonance imaging (MRI) due to abnormal iron deposition. Here, we present a late-onset case, along with diffusion tensor imaging (DTI).</p>
</sec>
<sec>
<title>Case Presentation</title>
<p>We report the case of a 74-year-old Caucasian female with no significant past medical history who presented for evaluation of orofacial dyskinesia, suspected to be edentulous dyskinesia given her history of ill-fitting dentures. She had also developed slowly progressive dysarthria, dysphagia, visual hallucinations as well as stereotypic movements of her hands and feet.</p>
</sec>
<sec>
<title>Results</title>
<p>The eye-of-the-tiger sign was demonstrated on T2 MRI. Increased fractional anisotropy and T2 hypointensity were observed in the periphery of the globus pallidus, putamen, substantia nigra, and dentate nucleus. T2 hyperintensity was present in the medial dentate nucleus and central globus pallidus.</p>
</sec>
<sec>
<title>Discussion</title>
<p>The pallidal MRI findings were more typical of pantothenate kinase-associated neurodegeneration (PKAN), but given additional dentate and putamenal involvement, lack of retinopathy, and advanced age of onset, PKAN was less likely. Although the patient's ferritin levels were within low normal range, her clinical and imaging features led to a diagnosis of neuroferritinopathy.</p>
</sec>
<sec>
<title>Conclusion</title>
<p>Neurodegeneration with brain iron accumulation (NBIA) is a rare cause of orofacial dyskinesia. DTI MRI can confirm abnormal iron deposition. The location of abnormal iron deposits helps in differentiating NBIA subtypes. Degeneration of the dentate and globus pallidus may occur via an analogous process given their similar T2 and DTI MRI appearance.</p>
</sec>
</abstract>
<kwd-group>
<title>Key words</title>
<kwd>Neurodegeneration with brain iron accumulation</kwd>
<kwd>Neuroferritinopathy</kwd>
<kwd>Diffusion tensor imaging</kwd>
<kwd>Hyperkinetic movement disorders</kwd>
</kwd-group>
<counts>
<fig-count count="3"></fig-count>
<ref-count count="22"></ref-count>
<page-count count="8"></page-count>
</counts>
</article-meta>
</front>
<floats-group>
<fig id="F1" orientation="portrait" position="float">
<label>Fig. 1</label>
<caption>
<p>Eye-of-the-tiger sign is seen on T2* (
<bold>a</bold>
) and T2 (
<bold>b</bold>
) sequences. Areas of increased fractional anisotropy corresponding to iron deposition (
<bold>c</bold>
) are seen in the right basal ganglia (orange; short arrow) and barely visible on the other side (violet; long arrow).</p>
</caption>
<graphic xlink:href="crn-0004-0216-g01"></graphic>
</fig>
<fig id="F2" orientation="portrait" position="float">
<label>Fig. 2</label>
<caption>
<p>T2* (
<bold>a</bold>
) and T2 (
<bold>b</bold>
) sequences of the midbrain showing a hypointense substantia nigra and red nucleus. The black and white FA map (
<bold>c</bold>
) shows areas of increased anisotropy in the substantia nigra (arrow).</p>
</caption>
<graphic xlink:href="crn-0004-0216-g02"></graphic>
</fig>
<fig id="F3" orientation="portrait" position="float">
<label>Fig. 3</label>
<caption>
<p>T2* (
<bold>a</bold>
) and T2 (
<bold>b</bold>
) sequences of the cerebellum showing hypointense areas of the dentate due to iron deposition (arrow) surrounding hyperintense areas, possibly analogous to the eye-of-the-tiger sign of the globus pallidus. The black and white FA map (
<bold>c</bold>
) shows increased anisotropy of the dentate nucleus (arrow).</p>
</caption>
<graphic xlink:href="crn-0004-0216-g03"></graphic>
</fig>
</floats-group>
</pmc>
</record>

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