Linked Life Data

10928582

Source:http://linkedlifedata.com/resource/pubmed/id/10928582

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2001-1-11
pubmed:abstractText
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
0885-3185
pubmed:author
pubmed:issnType
Print
pubmed:volume
15
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
705-8
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
2000
pubmed:articleTitle
Adult Chediak-Higashi parkinsonian syndrome with dystonia.
pubmed:affiliation
Department of Neurology, University of South Florida, Tampa, USA.
pubmed:publicationType
Journal Article, Case Reports