Adult nonketotic hyperglycinemia (NKH) crisis presenting as severe chorea and encephalopathy.
Identifieur interne : 003574 ( PubMed/Checkpoint ); précédent : 003573; suivant : 003575Adult nonketotic hyperglycinemia (NKH) crisis presenting as severe chorea and encephalopathy.
Auteurs : Deborah A. Hall [États-Unis] ; Steven P. RingelSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2004.
English descriptors
- KwdEn :
- MESH :
- chemically induced : Chorea.
- diagnosis : Chorea, Hyperglycinemia, Nonketotic.
- etiology : Neurotoxicity Syndromes.
- radiography : Brain.
- Adult, Diagnosis, Differential, Electroencephalography, Female, Humans, Tomography, X-Ray Computed.
Abstract
We report on a patient with mild episodic nonketotic hyperglycinemia (NKH) on valproate who developed episodes of encephalopathy and chorea provoked by a fever and protein loading. After treatment with sodium benzoate and dextromethorphan, the patient's encephalopathy resolved and her chorea improved. The importance of this case is in recognizing this rare syndrome, which may present in the adult population.
DOI: 10.1002/mds.10681
PubMed: 15077252
Affiliations:
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pubmed:15077252Le document en format XML
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<author><name sortKey="Hall, Deborah A" sort="Hall, Deborah A" uniqKey="Hall D" first="Deborah A" last="Hall">Deborah A. Hall</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, University of Colorado School of Medicine, Denver, Colorado 80262, USA.</nlm:affiliation>
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<wicri:regionArea>Department of Neurology, University of Colorado School of Medicine, Denver, Colorado 80262</wicri:regionArea>
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<author><name sortKey="Ringel, Steven P" sort="Ringel, Steven P" uniqKey="Ringel S" first="Steven P" last="Ringel">Steven P. Ringel</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Adult nonketotic hyperglycinemia (NKH) crisis presenting as severe chorea and encephalopathy.</title>
<author><name sortKey="Hall, Deborah A" sort="Hall, Deborah A" uniqKey="Hall D" first="Deborah A" last="Hall">Deborah A. Hall</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, University of Colorado School of Medicine, Denver, Colorado 80262, USA.</nlm:affiliation>
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<author><name sortKey="Ringel, Steven P" sort="Ringel, Steven P" uniqKey="Ringel S" first="Steven P" last="Ringel">Steven P. Ringel</name>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Brain (radiography)</term>
<term>Chorea (chemically induced)</term>
<term>Chorea (diagnosis)</term>
<term>Diagnosis, Differential</term>
<term>Electroencephalography</term>
<term>Female</term>
<term>Humans</term>
<term>Hyperglycinemia, Nonketotic (diagnosis)</term>
<term>Neurotoxicity Syndromes (etiology)</term>
<term>Tomography, X-Ray Computed</term>
</keywords>
<keywords scheme="MESH" qualifier="chemically induced" xml:lang="en"><term>Chorea</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Chorea</term>
<term>Hyperglycinemia, Nonketotic</term>
</keywords>
<keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Neurotoxicity Syndromes</term>
</keywords>
<keywords scheme="MESH" qualifier="radiography" xml:lang="en"><term>Brain</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Diagnosis, Differential</term>
<term>Electroencephalography</term>
<term>Female</term>
<term>Humans</term>
<term>Tomography, X-Ray Computed</term>
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<front><div type="abstract" xml:lang="en">We report on a patient with mild episodic nonketotic hyperglycinemia (NKH) on valproate who developed episodes of encephalopathy and chorea provoked by a fever and protein loading. After treatment with sodium benzoate and dextromethorphan, the patient's encephalopathy resolved and her chorea improved. The importance of this case is in recognizing this rare syndrome, which may present in the adult population.</div>
</front>
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<DateCreated><Year>2004</Year>
<Month>04</Month>
<Day>12</Day>
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<DateCompleted><Year>2004</Year>
<Month>08</Month>
<Day>05</Day>
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<DateRevised><Year>2004</Year>
<Month>11</Month>
<Day>17</Day>
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<Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN>
<JournalIssue CitedMedium="Print"><Volume>19</Volume>
<Issue>4</Issue>
<PubDate><Year>2004</Year>
<Month>Apr</Month>
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<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
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<ArticleTitle>Adult nonketotic hyperglycinemia (NKH) crisis presenting as severe chorea and encephalopathy.</ArticleTitle>
<Pagination><MedlinePgn>485-6</MedlinePgn>
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<Abstract><AbstractText>We report on a patient with mild episodic nonketotic hyperglycinemia (NKH) on valproate who developed episodes of encephalopathy and chorea provoked by a fever and protein loading. After treatment with sodium benzoate and dextromethorphan, the patient's encephalopathy resolved and her chorea improved. The importance of this case is in recognizing this rare syndrome, which may present in the adult population.</AbstractText>
<CopyrightInformation>Copyright 2003 Movement Disorder Society</CopyrightInformation>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Hall</LastName>
<ForeName>Deborah A</ForeName>
<Initials>DA</Initials>
<AffiliationInfo><Affiliation>Department of Neurology, University of Colorado School of Medicine, Denver, Colorado 80262, USA.</Affiliation>
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<Author ValidYN="Y"><LastName>Ringel</LastName>
<ForeName>Steven P</ForeName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D002819">Chorea</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D014057">Tomography, X-Ray Computed</DescriptorName>
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