MovDisordV3, Main, Exploration, bibRecord, 004B55

Adult Chediak‐Higashi Parkinsonian syndrome with dystonia

Identifieur interne : 004B55 ( Main/Exploration ); précédent : 004B54; suivant : 004B56

Adult Chediak‐Higashi Parkinsonian syndrome with dystonia

Auteurs : Robert A. Hauser [États-Unis] ; Jeffrey Friedlander [États-Unis] ; Matthew J. Baker [États-Unis] ; Jeffrey Thomas [États-Unis] ; Kenneth S. Zuckerman [États-Unis]

Source :

Movement Disorders [ 0885-3185 ] ; 2000-07.

RBID : ISTEX:A9D9BFE49A8469421A5DD88683514FAAB1DF9F22

Descripteurs français

Pascal (Inist)
- Adulte, Chediak maladie, Dystonie, Etude cas, Parkinsonisme, Symptomatologie.
Wicri :
- topic : Adulte.

English descriptors

KwdEn :
- Adult, Case study, Chediak syndrome, Chediak-Higashi Syndrome (diagnosis), Chediak-Higashi Syndrome (genetics), Chediak-Higashi Syndrome (pathology), Chediak‐Higashi syndrome, Cytoplasmic Granules (ultrastructure), Dystonia, Dystonia (diagnosis), Dystonia (genetics), Dystonia (pathology), Follow-Up Studies, Humans, Male, Neurologic Examination, Neutrophils (pathology), Parkinsonian Disorders (diagnosis), Parkinsonian Disorders (genetics), Parkinsonian Disorders (pathology), Parkinsonism, Symptomatology, Tremor.
MESH :
- diagnosis : Chediak-Higashi Syndrome, Dystonia, Parkinsonian Disorders.
- genetics : Chediak-Higashi Syndrome, Dystonia, Parkinsonian Disorders.
- pathology : Chediak-Higashi Syndrome, Dystonia, Neutrophils, Parkinsonian Disorders.
- ultrastructure : Cytoplasmic Granules.
- Adult, Follow-Up Studies, Humans, Male, Neurologic Examination.

Abstract

Chediak‐Higashi syndrome (CHS) is a rare autosomal‐recessive disorder characterized by immune deficiency, partial oculocutaneous albinism, and large eosinophilic, peroxidase‐positive inclusion bodies in granule‐containing cells. The adult form of CHS manifests during late childhood to early adulthood and is marked by various neurologic sequelae, including parkinsonism, dementia, spinocerebellar degeneration, and peripheral neuropathy. We report the case of a 29‐year‐old man with adult CHS who exhibited a progressive asymmetric parkinsonism, including rest tremor, and axial, cervical, and appendicular dystonia. The diagnosis was confirmed by the presence of characteristic large peroxidase‐positive granules within leukocytes and markedly decreased natural killer cell function. Levodopa/carbidopa and amantadine provided benefit for tremor. CHS, although rare, should be considered in the differential diagnosis of young adult parkinsonism.

Url:

https://api.istex.fr/document/A9D9BFE49A8469421A5DD88683514FAAB1DF9F22/fulltext/pdf

DOI: 10.1002/1531-8257(200007)15:4<705::AID-MDS1016>3.0.CO;2-B

Affiliations:

Le document en format XML

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<front><div type="abstract" xml:lang="en">Chediak‐Higashi syndrome (CHS) is a rare autosomal‐recessive disorder characterized by immune deficiency, partial oculocutaneous albinism, and large eosinophilic, peroxidase‐positive inclusion bodies in granule‐containing cells. The adult form of CHS manifests during late childhood to early adulthood and is marked by various neurologic sequelae, including parkinsonism, dementia, spinocerebellar degeneration, and peripheral neuropathy. We report the case of a 29‐year‐old man with adult CHS who exhibited a progressive asymmetric parkinsonism, including rest tremor, and axial, cervical, and appendicular dystonia. The diagnosis was confirmed by the presence of characteristic large peroxidase‐positive granules within leukocytes and markedly decreased natural killer cell function. Levodopa/carbidopa and amantadine provided benefit for tremor. CHS, although rare, should be considered in the differential diagnosis of young adult parkinsonism.</div>
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Movement Disorders (revue)

Adult Chediak‐Higashi Parkinsonian syndrome with dystonia

Adult Chediak‐Higashi Parkinsonian syndrome with dystonia

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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