Adult Chediak-Higashi Parkinsonian syndrome with dystonia
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 adulthoo...
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| Veröffentlicht in: | Movement disorders 2000-07, Vol.15 (4), p.705-708 |
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| creator | Hauser, Robert A. Friedlander, Jeffrey Baker, Matthew J. Thomas, Jeffrey Zuckerman, Kenneth S. |
| description | 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. |
| doi_str_mv | 10.1002/1531-8257(200007)15:4<705::AID-MDS1016>3.0.CO;2-B |
| format | Article |
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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. 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Disord</addtitle><description>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.</description><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>Chediak-Higashi syndrome</subject><subject>Chediak-Higashi Syndrome - diagnosis</subject><subject>Chediak-Higashi Syndrome - genetics</subject><subject>Chediak-Higashi Syndrome - pathology</subject><subject>Cytoplasmic Granules - ultrastructure</subject><subject>Dystonia</subject><subject>Dystonia - diagnosis</subject><subject>Dystonia - genetics</subject><subject>Dystonia - pathology</subject><subject>Follow-Up Studies</subject><subject>Humans</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Nervous system (semeiology, syndromes)</subject><subject>Nervous system as a whole</subject><subject>Neurologic Examination</subject><subject>Neurology</subject><subject>Neutrophils - pathology</subject><subject>Parkinsonian Disorders - diagnosis</subject><subject>Parkinsonian Disorders - genetics</subject><subject>Parkinsonian Disorders - pathology</subject><subject>Parkinsonism</subject><subject>Tremor</subject><issn>0885-3185</issn><issn>1531-8257</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2000</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqVkV1v0zAUhi0EYmXwF1AuEGIXLv62U9CkLoNtUqEdX-PuyEmc1SxNRpxq9N_jKqVwgYTwjaVXj18fP0YopWRMCWEvqeQUGyb1C0bi0kdUTsRrTeRkMr04xe9OP1JC1TEfk3E2f8XwyT002p-5j0bEGIk5NfIAPQrhGyGUSqoeogNKUmakYSOUTst13SfZ0pXe3uBzf23D0icL2934JrSNt00SNk3ZtSuX3Pl-mZSb0G_zx-hBZevgnuz2Q_T57ZtP2Tmezc8usukMF0JqhYXOhSlyK3VVuNwVzDFXlUpSWVmqVVrklXZElBUVqTFGq5KkgjnNhVCKWs4P0fOh97Zrv69d6GHlQ-Hq2jauXQfQlEnFSfpPkMXXp4zRCF4OYNG1IXSugtvOr2y3AUpgKx62EmErEQbxMQABUTxAFA878cCBQDYHBiex8-nu8nW-cuUfjYPpCDzbATYUtq462xQ-_OYE14wYvrd452u3-Y_B_j7Xryj24qHXh9792PfGbwaluZZw9f4MvlzNFh8uF1-B8J9maLah</recordid><startdate>200007</startdate><enddate>200007</enddate><creator>Hauser, Robert A.</creator><creator>Friedlander, Jeffrey</creator><creator>Baker, Matthew J.</creator><creator>Thomas, Jeffrey</creator><creator>Zuckerman, Kenneth S.</creator><general>John Wiley & Sons, Inc</general><general>Wiley</general><scope>BSCLL</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7TK</scope><scope>7X8</scope><scope>8BM</scope></search><sort><creationdate>200007</creationdate><title>Adult Chediak-Higashi Parkinsonian syndrome with dystonia</title><author>Hauser, Robert A. ; Friedlander, Jeffrey ; Baker, Matthew J. ; Thomas, Jeffrey ; Zuckerman, Kenneth S.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4576-47b48cba57fcebec2e2efd6515fa1769cbf7e04df14988876d0942e7344661a33</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2000</creationdate><topic>Adult</topic><topic>Biological and medical sciences</topic><topic>Chediak-Higashi syndrome</topic><topic>Chediak-Higashi Syndrome - diagnosis</topic><topic>Chediak-Higashi Syndrome - genetics</topic><topic>Chediak-Higashi Syndrome - pathology</topic><topic>Cytoplasmic Granules - ultrastructure</topic><topic>Dystonia</topic><topic>Dystonia - diagnosis</topic><topic>Dystonia - genetics</topic><topic>Dystonia - pathology</topic><topic>Follow-Up Studies</topic><topic>Humans</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Nervous system (semeiology, syndromes)</topic><topic>Nervous system as a whole</topic><topic>Neurologic Examination</topic><topic>Neurology</topic><topic>Neutrophils - pathology</topic><topic>Parkinsonian Disorders - diagnosis</topic><topic>Parkinsonian Disorders - genetics</topic><topic>Parkinsonian Disorders - pathology</topic><topic>Parkinsonism</topic><topic>Tremor</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Hauser, Robert A.</creatorcontrib><creatorcontrib>Friedlander, Jeffrey</creatorcontrib><creatorcontrib>Baker, Matthew J.</creatorcontrib><creatorcontrib>Thomas, Jeffrey</creatorcontrib><creatorcontrib>Zuckerman, Kenneth S.</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Neurosciences Abstracts</collection><collection>MEDLINE - Academic</collection><collection>ComDisDome</collection><jtitle>Movement disorders</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Hauser, Robert A.</au><au>Friedlander, Jeffrey</au><au>Baker, Matthew J.</au><au>Thomas, Jeffrey</au><au>Zuckerman, Kenneth S.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Adult Chediak-Higashi Parkinsonian syndrome with dystonia</atitle><jtitle>Movement disorders</jtitle><addtitle>Mov. Disord</addtitle><date>2000-07</date><risdate>2000</risdate><volume>15</volume><issue>4</issue><spage>705</spage><epage>708</epage><pages>705-708</pages><issn>0885-3185</issn><eissn>1531-8257</eissn><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. 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| subjects | Adult Biological and medical sciences Chediak-Higashi syndrome Chediak-Higashi Syndrome - diagnosis Chediak-Higashi Syndrome - genetics Chediak-Higashi Syndrome - pathology Cytoplasmic Granules - ultrastructure Dystonia Dystonia - diagnosis Dystonia - genetics Dystonia - pathology Follow-Up Studies Humans Male Medical sciences Nervous system (semeiology, syndromes) Nervous system as a whole Neurologic Examination Neurology Neutrophils - pathology Parkinsonian Disorders - diagnosis Parkinsonian Disorders - genetics Parkinsonian Disorders - pathology Parkinsonism Tremor |
| title | Adult Chediak-Higashi Parkinsonian syndrome with dystonia |
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