Late-Onset Neurodegeneration with Brain Iron Accumulation with Diffusion Tensor Magnetic Resonance Imaging
Identifieur interne : 003187 ( Main/Exploration ); précédent : 003186; suivant : 003188Late-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 :
- Case Reports in Neurology [ 1662-680X ] ; 2012.
Abstract
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).
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.
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.
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.
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
Affiliations:
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Late-Onset Neurodegeneration with Brain Iron Accumulation with Diffusion Tensor Magnetic Resonance Imaging</title><author><name sortKey="Shah, Syed Omar" sort="Shah, Syed Omar" uniqKey="Shah S" first="Syed Omar" last="Shah">Syed Omar Shah</name><affiliation wicri:level="1"><nlm:aff id="aff1">Department of Neurology, New York Medical College, Valhalla, N.Y., USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, New York Medical College, Valhalla, N.Y.</wicri:regionArea><wicri:noRegion>N.Y.</wicri:noRegion></affiliation></author><author><name sortKey="Mehta, Hasit" sort="Mehta, Hasit" uniqKey="Mehta H" first="Hasit" last="Mehta">Hasit Mehta</name><affiliation wicri:level="1"><nlm:aff id="aff2">Department of Radiology, Westchester Medical Center, Valhalla, N.Y., USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Radiology, Westchester Medical Center, Valhalla, N.Y.</wicri:regionArea><wicri:noRegion>N.Y.</wicri:noRegion></affiliation></author><author><name sortKey="Fekete, Robert" sort="Fekete, Robert" uniqKey="Fekete R" first="Robert" last="Fekete">Robert Fekete</name><affiliation wicri:level="1"><nlm:aff id="aff1">Department of Neurology, New York Medical College, Valhalla, N.Y., USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, New York Medical College, Valhalla, N.Y.</wicri:regionArea><wicri:noRegion>N.Y.</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">23275784</idno><idno type="pmc">3531933</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3531933</idno><idno type="RBID">PMC:3531933</idno><idno type="doi">10.1159/000345871</idno><date when="2012">2012</date><idno type="wicri:Area/Pmc/Corpus">001B67</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001B67</idno><idno type="wicri:Area/Pmc/Curation">001B67</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">001B67</idno><idno type="wicri:Area/Pmc/Checkpoint">001E08</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">001E08</idno><idno type="wicri:Area/Ncbi/Merge">004368</idno><idno type="wicri:Area/Ncbi/Curation">004368</idno><idno type="wicri:Area/Ncbi/Checkpoint">004368</idno><idno type="wicri:Area/Main/Merge">003202</idno><idno type="wicri:Area/Main/Curation">003187</idno><idno type="wicri:Area/Main/Exploration">003187</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Late-Onset Neurodegeneration with Brain Iron Accumulation with Diffusion Tensor Magnetic Resonance Imaging</title><author><name sortKey="Shah, Syed Omar" sort="Shah, Syed Omar" uniqKey="Shah S" first="Syed Omar" last="Shah">Syed Omar Shah</name><affiliation wicri:level="1"><nlm:aff id="aff1">Department of Neurology, New York Medical College, Valhalla, N.Y., USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, New York Medical College, Valhalla, N.Y.</wicri:regionArea><wicri:noRegion>N.Y.</wicri:noRegion></affiliation></author><author><name sortKey="Mehta, Hasit" sort="Mehta, Hasit" uniqKey="Mehta H" first="Hasit" last="Mehta">Hasit Mehta</name><affiliation wicri:level="1"><nlm:aff id="aff2">Department of Radiology, Westchester Medical Center, Valhalla, N.Y., USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Radiology, Westchester Medical Center, Valhalla, N.Y.</wicri:regionArea><wicri:noRegion>N.Y.</wicri:noRegion></affiliation></author><author><name sortKey="Fekete, Robert" sort="Fekete, Robert" uniqKey="Fekete R" first="Robert" last="Fekete">Robert Fekete</name><affiliation wicri:level="1"><nlm:aff id="aff1">Department of Neurology, New York Medical College, Valhalla, N.Y., USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, New York Medical College, Valhalla, N.Y.</wicri:regionArea><wicri:noRegion>N.Y.</wicri:noRegion></affiliation></author></analytic><series><title level="j">Case Reports in Neurology</title><idno type="eISSN">1662-680X</idno><imprint><date when="2012">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><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></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Curtis, Ar" uniqKey="Curtis A">AR Curtis</name></author><author><name sortKey="Fey, C" uniqKey="Fey C">C Fey</name></author><author><name sortKey="Morris, Cm" uniqKey="Morris C">CM Morris</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Ohta, E" uniqKey="Ohta E">E Ohta</name></author><author><name sortKey="Takiyama, Y" uniqKey="Takiyama Y">Y Takiyama</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Vidal, R" uniqKey="Vidal R">R Vidal</name></author><author><name sortKey="Miravalle, L" uniqKey="Miravalle L">L Miravalle</name></author><author><name sortKey="Gao, X" uniqKey="Gao X">X Gao</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Vidal, R" 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