Neuronal intranuclear inclusion disease: report on a case originally diagnosed as dopa-responsive dystonia with Lewy bodies.
Identifieur interne : 001294 ( Ncbi/Curation ); précédent : 001293; suivant : 001295Neuronal intranuclear inclusion disease: report on a case originally diagnosed as dopa-responsive dystonia with Lewy bodies.
Auteurs : Dominic C. Paviour [Royaume-Uni] ; Tamas Revesz ; Janice L. Holton ; Andrew Evans ; Jan-Edvin Olsson ; Andrew J. LeesSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2005.
English descriptors
- KwdEn :
- Adult, Biopsy, Diagnosis, Differential, Diagnostic Errors, Eosinophilia (pathology), Fatal Outcome, Female, Humans, Hyalin (metabolism), Intranuclear Inclusion Bodies (metabolism), Lewy Body Disease (diagnosis), Lung (pathology), Neurodegenerative Diseases (drug therapy), Neurodegenerative Diseases (metabolism), Neurons (metabolism), Rectum (pathology).
- 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.
DOI: 10.1002/mds.20559
PubMed: 15966005
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Paviour</name><affiliation wicri:level="3"><nlm:affiliation>The Sara Koe Progressive Supranuclear Palsy Research Centre, Institute of Neurology, University College London, London, United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>The Sara Koe Progressive Supranuclear Palsy Research Centre, Institute of Neurology, University College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Revesz, Tamas" sort="Revesz, Tamas" uniqKey="Revesz T" first="Tamas" last="Revesz">Tamas Revesz</name></author><author><name sortKey="Holton, Janice L" sort="Holton, Janice L" uniqKey="Holton J" first="Janice L" last="Holton">Janice L. Holton</name></author><author><name sortKey="Evans, Andrew" sort="Evans, Andrew" uniqKey="Evans A" first="Andrew" last="Evans">Andrew Evans</name></author><author><name sortKey="Olsson, Jan Edvin" sort="Olsson, Jan Edvin" uniqKey="Olsson J" first="Jan-Edvin" last="Olsson">Jan-Edvin Olsson</name></author><author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J" last="Lees">Andrew J. 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Holton</name></author><author><name sortKey="Evans, Andrew" sort="Evans, Andrew" uniqKey="Evans A" first="Andrew" last="Evans">Andrew Evans</name></author><author><name sortKey="Olsson, Jan Edvin" sort="Olsson, Jan Edvin" uniqKey="Olsson J" first="Jan-Edvin" last="Olsson">Jan-Edvin Olsson</name></author><author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J" last="Lees">Andrew J. Lees</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2005" type="published">2005</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Biopsy</term><term>Diagnosis, Differential</term><term>Diagnostic Errors</term><term>Eosinophilia (pathology)</term><term>Fatal Outcome</term><term>Female</term><term>Humans</term><term>Hyalin (metabolism)</term><term>Intranuclear Inclusion Bodies (metabolism)</term><term>Lewy Body Disease (diagnosis)</term><term>Lung (pathology)</term><term>Neurodegenerative Diseases (drug therapy)</term><term>Neurodegenerative Diseases (metabolism)</term><term>Neurons (metabolism)</term><term>Rectum (pathology)</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></textClass></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.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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