Niemann‐Pick disease type C: Two cases and an update
Identifieur interne : 004A14 ( Main/Exploration ); précédent : 004A13; suivant : 004A15Niemann‐Pick disease type C: Two cases and an update
Auteurs : Ergun Y. Uc [États-Unis] ; David A. Wenger [États-Unis] ; Joseph Jankovic [États-Unis]Source :
- Movement Disorders [ 0885-3185 ] ; 2000-11.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Adulte.
English descriptors
- KwdEn :
- Adolescent, Adult, Age of Onset, Age of onset, Atypical, Case study, Cells, Cultured, Cerebellar ataxia, Cholesterol (metabolism), Diagnosis, Differential, Differential diagnostic, Disease Progression, Dystonia, Enzymopathy, Esterification, Female, Fibroblasts (metabolism), Humans, Juvenile character, Lipidosis, Male, Middle Aged, Niemann Pick disease, Niemann-Pick Diseases (diagnosis), Niemann-Pick Diseases (physiopathology), Niemann‐Pick disease, Phenotype, Polyneuropathy, Skin (pathology).
- MESH :
- chemical , metabolism : Cholesterol.
- diagnosis : Niemann-Pick Diseases.
- metabolism : Fibroblasts.
- pathology : Skin.
- physiopathology : Niemann-Pick Diseases.
- Adolescent, Age of Onset, Cells, Cultured, Diagnosis, Differential, Disease Progression, Esterification, Female, Humans, Male, Middle Aged.
Abstract
We describe two patients with juvenile‐onset Niemann‐Pick disease type C (NPC) to illustrate the variable neurologic features of this condition. One presented with hypersplenism at age 10 and was misdiagnosed with Gaucher disease. He developed complex partial seizures in his teens but remained otherwise neurologically asymptomatic until his mid 30s. At age 45, he had mild dementia and dysarthria, vertical supranuclear ophthalmoplegia, axonal sensorimotor polyneuropathy, and cerebellar ataxia. The second patient presented with rapidly progressive dystonia at age 8, and mild hepatosplenomegaly, vertical supranuclear ophthalmoplegia, severe behavioral disorder, and dementia by age 14. The diagnosis of NPC was based on deficient cholesterol esterification and excessive lysosomal filipin staining in cultured skin fibroblasts. Current notions about diagnosis and pathogenesis of NPC are reviewed.
Url:
DOI: 10.1002/1531-8257(200011)15:6<1199::AID-MDS1020>3.0.CO;2-1
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: 002C11
- to stream Istex, to step Curation: 002C11
- to stream Istex, to step Checkpoint: 003214
- to stream Main, to step Merge: 007311
- to stream PascalFrancis, to step Corpus: 002B11
- to stream PascalFrancis, to step Curation: 000210
- to stream PascalFrancis, to step Checkpoint: 002B57
- to stream Main, to step Merge: 007549
- to stream PubMed, to step Corpus: 003E60
- to stream PubMed, to step Curation: 003E60
- to stream PubMed, to step Checkpoint: 003F26
- to stream Ncbi, to step Merge: 000391
- to stream Ncbi, to step Curation: 000391
- to stream Ncbi, to step Checkpoint: 000391
- to stream Main, to step Merge: 007069
- to stream Main, to step Curation: 004A14
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Niemann‐Pick disease type C: Two cases and an update</title>
<author><name sortKey="Uc, Ergun Y" sort="Uc, Ergun Y" uniqKey="Uc E" first="Ergun Y." last="Uc">Ergun Y. Uc</name>
</author>
<author><name sortKey="Wenger, David A" sort="Wenger, David A" uniqKey="Wenger D" first="David A." last="Wenger">David A. Wenger</name>
</author>
<author><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name>
<affiliation><country>États-Unis</country>
<placeName><settlement type="city">Houston</settlement>
<region type="state">Texas</region>
</placeName>
<orgName type="university" n="3">Baylor College of Medicine</orgName>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:CA7CBCAD4C98BCB7675B4FB067DEDA4ADB6C19DD</idno>
<date when="2000" year="2000">2000</date>
<idno type="doi">10.1002/1531-8257(200011)15:6<1199::AID-MDS1020>3.0.CO;2-1</idno>
<idno type="url">https://api.istex.fr/document/CA7CBCAD4C98BCB7675B4FB067DEDA4ADB6C19DD/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">002C11</idno>
<idno type="wicri:Area/Istex/Curation">002C11</idno>
<idno type="wicri:Area/Istex/Checkpoint">003214</idno>
<idno type="wicri:doubleKey">0885-3185:2000:Uc E:niemann:pick:disease</idno>
<idno type="wicri:Area/Main/Merge">007311</idno>
<idno type="wicri:source">INIST</idno>
<idno type="RBID">Pascal:01-0016457</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">002B11</idno>
<idno type="wicri:Area/PascalFrancis/Curation">000210</idno>
<idno type="wicri:Area/PascalFrancis/Checkpoint">002B57</idno>
<idno type="wicri:doubleKey">0885-3185:2000:Uc E:niemann:pick:disease</idno>
<idno type="wicri:Area/Main/Merge">007549</idno>
<idno type="wicri:source">PubMed</idno>
<idno type="RBID">pubmed:11104205</idno>
<idno type="wicri:Area/PubMed/Corpus">003E60</idno>
<idno type="wicri:Area/PubMed/Curation">003E60</idno>
<idno type="wicri:Area/PubMed/Checkpoint">003F26</idno>
<idno type="wicri:Area/Ncbi/Merge">000391</idno>
<idno type="wicri:Area/Ncbi/Curation">000391</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">000391</idno>
<idno type="wicri:doubleKey">0885-3185:2000:Uc E:niemann:pick:disease</idno>
<idno type="wicri:Area/Main/Merge">007069</idno>
<idno type="wicri:Area/Main/Curation">004A14</idno>
<idno type="wicri:Area/Main/Exploration">004A14</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Niemann‐Pick disease type C: Two cases and an update</title>
<author><name sortKey="Uc, Ergun Y" sort="Uc, Ergun Y" uniqKey="Uc E" first="Ergun Y." last="Uc">Ergun Y. Uc</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, University of Arkansas for Medical Sciences, Little Rock, Arkansas</wicri:regionArea>
<placeName><region type="state">Arkansas</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Wenger, David A" sort="Wenger, David A" uniqKey="Wenger D" first="David A." last="Wenger">David A. Wenger</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Jefferson Medical College, Philadelphia, Pennsylvania</wicri:regionArea>
<placeName><region type="state">Pennsylvanie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, Texas</wicri:regionArea>
<placeName><region type="state">Texas</region>
</placeName>
<placeName><settlement type="city">Houston</settlement>
<region type="state">Texas</region>
</placeName>
<orgName type="university" n="3">Baylor College of Medicine</orgName>
</affiliation>
</author>
</analytic>
<monogr></monogr>
<series><title level="j">Movement Disorders</title>
<title level="j" type="sub">Official Journal of the Movement Disorder Society</title>
<title level="j" type="abbrev">Mov. Disord.</title>
<idno type="ISSN">0885-3185</idno>
<idno type="eISSN">1531-8257</idno>
<imprint><publisher>John Wiley & Sons, Inc.</publisher>
<pubPlace>New York</pubPlace>
<date type="published" when="2000-11">2000-11</date>
<biblScope unit="vol">15</biblScope>
<biblScope unit="issue">6</biblScope>
<biblScope unit="page" from="1199">1199</biblScope>
<biblScope unit="page" to="1203">1203</biblScope>
</imprint>
<idno type="ISSN">0885-3185</idno>
</series>
<idno type="istex">CA7CBCAD4C98BCB7675B4FB067DEDA4ADB6C19DD</idno>
<idno type="DOI">10.1002/1531-8257(200011)15:6<1199::AID-MDS1020>3.0.CO;2-1</idno>
<idno type="ArticleID">MDS1020</idno>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Age of Onset</term>
<term>Age of onset</term>
<term>Atypical</term>
<term>Case study</term>
<term>Cells, Cultured</term>
<term>Cerebellar ataxia</term>
<term>Cholesterol (metabolism)</term>
<term>Diagnosis, Differential</term>
<term>Differential diagnostic</term>
<term>Disease Progression</term>
<term>Dystonia</term>
<term>Enzymopathy</term>
<term>Esterification</term>
<term>Female</term>
<term>Fibroblasts (metabolism)</term>
<term>Humans</term>
<term>Juvenile character</term>
<term>Lipidosis</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Niemann Pick disease</term>
<term>Niemann-Pick Diseases (diagnosis)</term>
<term>Niemann-Pick Diseases (physiopathology)</term>
<term>Niemann‐Pick disease</term>
<term>Phenotype</term>
<term>Polyneuropathy</term>
<term>Skin (pathology)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Cholesterol</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Niemann-Pick Diseases</term>
</keywords>
<keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Fibroblasts</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Skin</term>
</keywords>
<keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Niemann-Pick Diseases</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Age of Onset</term>
<term>Cells, Cultured</term>
<term>Diagnosis, Differential</term>
<term>Disease Progression</term>
<term>Esterification</term>
<term>Female</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Adolescent</term>
<term>Adulte</term>
<term>Age apparition</term>
<term>Atypique</term>
<term>Caractère juvénile</term>
<term>Diagnostic différentiel</term>
<term>Enzymopathie</term>
<term>Etude cas</term>
<term>Femelle</term>
<term>Mâle</term>
<term>Phénotype</term>
<term>Sphingolipidose héréditaire Niemann Pick</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Adulte</term>
</keywords>
</textClass>
<langUsage><language ident="en">en</language>
</langUsage>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">We describe two patients with juvenile‐onset Niemann‐Pick disease type C (NPC) to illustrate the variable neurologic features of this condition. One presented with hypersplenism at age 10 and was misdiagnosed with Gaucher disease. He developed complex partial seizures in his teens but remained otherwise neurologically asymptomatic until his mid 30s. At age 45, he had mild dementia and dysarthria, vertical supranuclear ophthalmoplegia, axonal sensorimotor polyneuropathy, and cerebellar ataxia. The second patient presented with rapidly progressive dystonia at age 8, and mild hepatosplenomegaly, vertical supranuclear ophthalmoplegia, severe behavioral disorder, and dementia by age 14. The diagnosis of NPC was based on deficient cholesterol esterification and excessive lysosomal filipin staining in cultured skin fibroblasts. Current notions about diagnosis and pathogenesis of NPC are reviewed.</div>
</front>
</TEI>
<affiliations><list><country><li>États-Unis</li>
</country>
<region><li>Arkansas</li>
<li>Pennsylvanie</li>
<li>Texas</li>
</region>
<settlement><li>Houston</li>
</settlement>
<orgName><li>Baylor College of Medicine</li>
</orgName>
</list>
<tree><country name="États-Unis"><region name="Arkansas"><name sortKey="Uc, Ergun Y" sort="Uc, Ergun Y" uniqKey="Uc E" first="Ergun Y." last="Uc">Ergun Y. Uc</name>
</region>
<name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name>
<name sortKey="Wenger, David A" sort="Wenger, David A" uniqKey="Wenger D" first="David A." last="Wenger">David A. Wenger</name>
</country>
</tree>
</affiliations>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 004A14 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 004A14 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Santé |area= MovDisordV3 |flux= Main |étape= Exploration |type= RBID |clé= ISTEX:CA7CBCAD4C98BCB7675B4FB067DEDA4ADB6C19DD |texte= Niemann‐Pick disease type C: Two cases and an update }}
![]() | This area was generated with Dilib version V0.6.23. | ![]() |