MovDisordV3, Main, Exploration, bibRecord, 004A14

Niemann‐Pick disease type C: Two cases and an update

Identifieur interne : 004A14 ( Main/Exploration ); précédent : 004A13; suivant : 004A15

Niemann‐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.

RBID : ISTEX:CA7CBCAD4C98BCB7675B4FB067DEDA4ADB6C19DD

Descripteurs français

Pascal (Inist)
- Adolescent, Adulte, Age apparition, Atypique, Caractère juvénile, Diagnostic différentiel, Enzymopathie, Etude cas, Femelle, Mâle, Phénotype, Sphingolipidose héréditaire Niemann Pick.
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:

https://api.istex.fr/document/CA7CBCAD4C98BCB7675B4FB067DEDA4ADB6C19DD/fulltext/pdf

DOI: 10.1002/1531-8257(200011)15:6<1199::AID-MDS1020>3.0.CO;2-1

Affiliations:

Le document en format XML

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<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>
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<term>Juvenile character</term>
<term>Lipidosis</term>
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<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>
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<term>Age of Onset</term>
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<term>Diagnosis, Differential</term>
<term>Disease Progression</term>
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<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
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<term>Diagnostic différentiel</term>
<term>Enzymopathie</term>
<term>Etude cas</term>
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<term>Mâle</term>
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<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>
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Movement Disorders (revue)

Niemann‐Pick disease type C: Two cases and an update

Niemann‐Pick disease type C: Two cases and an update

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	Movement Disorders (revue)
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