Neuronal intranuclear inclusion disease: Report on a case originally diagnosed as dopa‐responsive dystonia with Lewy bodies
Identifieur interne : 003828 ( Main/Exploration ); précédent : 003827; suivant : 003829Neuronal intranuclear inclusion disease: Report on a case originally diagnosed as dopa‐responsive dystonia with Lewy bodies
Auteurs : Dominic C. Paviour [Royaume-Uni] ; Tamas Revesz [Royaume-Uni] ; Janice L. Holton [Royaume-Uni] ; Andrew Evans [Royaume-Uni] ; Jan-Edvin Olsson [Suède] ; Andrew Lees (neurologue) [Royaume-Uni]Source :
- Movement Disorders [ 0885-3185 ] ; 2005-10.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Adult, Biopsy, Case study, Diagnosis, Differential, Diagnostic Errors, Differential diagnostic, Eosinophilia (pathology), Fatal Outcome, Female, Humans, Hyalin (metabolism), Inclusion, Intranuclear Inclusion Bodies (metabolism), Lewy Body Disease (diagnosis), Lewy body, Lung (pathology), Nervous system diseases, Neurodegenerative Diseases (drug therapy), Neurodegenerative Diseases (metabolism), Neurons (metabolism), Parkinsonism, Rectum (pathology), Segawa disease, differential diagnosis, juvenile parkinsonism, neuronal intranuclear inclusion disease, rectal biopsy.
- MESH :
- diagnosis : Lewy Body Disease.
- drug therapy : Neurodegenerative Diseases.
- metabolism : Hyalin, Intranuclear Inclusion Bodies, Neurodegenerative Diseases, Neurons.
- pathology : Eosinophilia, Lung, Rectum.
- Adult, Biopsy, Diagnosis, Differential, Diagnostic Errors, Fatal Outcome, Female, Humans.
Abstract
Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder with a heterogeneous clinical picture characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells. We describe a case, reported 12 years ago as dopa‐responsive dystonia (DRD) with Lewy body pathology. Pathological re‐examination has led to a revised diagnosis of neuronal intranuclear inclusion disease. This rare condition, which may be diagnosed in life with a full thickness rectal biopsy, needs to be considered in the differential diagnosis of any case presenting as progressive juvenile parkinsonism (JP) or dystonia. © 2005 Movement Disorder Society
Url:
DOI: 10.1002/mds.20559
Affiliations:
- Royaume-Uni, Suède
- Angleterre, Grand Londres
- Londres
- National Hospital for Neurology and Neurosurgery
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Le document en format XML
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Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2005-10">2005-10</date><biblScope unit="vol">20</biblScope><biblScope unit="issue">10</biblScope><biblScope unit="page" from="1345">1345</biblScope><biblScope unit="page" to="1349">1349</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">B520AB5298F8BB0F6B8EAF7033E393F1783E12E6</idno><idno type="DOI">10.1002/mds.20559</idno><idno type="ArticleID">MDS20559</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Biopsy</term><term>Case study</term><term>Diagnosis, Differential</term><term>Diagnostic Errors</term><term>Differential diagnostic</term><term>Eosinophilia (pathology)</term><term>Fatal Outcome</term><term>Female</term><term>Humans</term><term>Hyalin (metabolism)</term><term>Inclusion</term><term>Intranuclear Inclusion Bodies (metabolism)</term><term>Lewy Body Disease (diagnosis)</term><term>Lewy body</term><term>Lung (pathology)</term><term>Nervous system diseases</term><term>Neurodegenerative Diseases (drug therapy)</term><term>Neurodegenerative Diseases (metabolism)</term><term>Neurons (metabolism)</term><term>Parkinsonism</term><term>Rectum (pathology)</term><term>Segawa disease</term><term>differential diagnosis</term><term>juvenile parkinsonism</term><term>neuronal intranuclear inclusion disease</term><term>rectal biopsy</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Lewy Body Disease</term></keywords><keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Neurodegenerative Diseases</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Hyalin</term><term>Intranuclear Inclusion Bodies</term><term>Neurodegenerative Diseases</term><term>Neurons</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Eosinophilia</term><term>Lung</term><term>Rectum</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Biopsy</term><term>Diagnosis, Differential</term><term>Diagnostic Errors</term><term>Fatal Outcome</term><term>Female</term><term>Humans</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Biopsie</term><term>Corps Lewy</term><term>Diagnostic différentiel</term><term>Etude cas</term><term>Inclusion</term><term>Parkinsonisme</term><term>Segawa maladie</term><term>Système nerveux pathologie</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder with a heterogeneous clinical picture characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells. We describe a case, reported 12 years ago as dopa‐responsive dystonia (DRD) with Lewy body pathology. Pathological re‐examination has led to a revised diagnosis of neuronal intranuclear inclusion disease. This rare condition, which may be diagnosed in life with a full thickness rectal biopsy, needs to be considered in the differential diagnosis of any case presenting as progressive juvenile parkinsonism (JP) or dystonia. © 2005 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Royaume-Uni</li><li>Suède</li></country><region><li>Angleterre</li><li>Grand Londres</li></region><settlement><li>Londres</li></settlement><orgName><li>National Hospital for Neurology and Neurosurgery</li></orgName></list><tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Paviour, Dominic C" sort="Paviour, Dominic C" uniqKey="Paviour D" first="Dominic C." last="Paviour">Dominic C. Paviour</name></region><name sortKey="Evans, Andrew" sort="Evans, Andrew" uniqKey="Evans A" first="Andrew" last="Evans">Andrew Evans</name><name sortKey="Holton, Janice L" sort="Holton, Janice L" uniqKey="Holton J" first="Janice L." last="Holton">Janice L. Holton</name><name sortKey="Holton, Janice L" sort="Holton, Janice L" uniqKey="Holton J" first="Janice L." last="Holton">Janice L. Holton</name><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew Lees (neurologue)</name><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew Lees (neurologue)</name><name sortKey="Revesz, Tamas" sort="Revesz, Tamas" uniqKey="Revesz T" first="Tamas" last="Revesz">Tamas Revesz</name><name sortKey="Revesz, Tamas" sort="Revesz, Tamas" uniqKey="Revesz T" first="Tamas" last="Revesz">Tamas Revesz</name></country><country name="Suède"><noRegion><name sortKey="Olsson, Jan Dvin" sort="Olsson, Jan Dvin" uniqKey="Olsson J" first="Jan-Edvin" last="Olsson">Jan-Edvin Olsson</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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