Griscelli syndrome: Report of Three Cases
The clinical features of three children with Griscelli syndrome and autopsy findings of two are presented. The patients were 5 years, 9 months, and 3 months old, respectively. Clinical features included partial albinism, hepatosplenomegaly, and various neurological symptoms. Light and electron micro...
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Veröffentlicht in: | Fetal and pediatric pathology 1995, Vol.15 (2), p.309-319 |
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container_title | Fetal and pediatric pathology |
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creator | Gö ü, Safiye Topçu, Meral Küçükali, Türkan Akçören, Zuhal Berkel, Izzet Ersoy, Figen Günay, Meral Saatçi, I il |
description | The clinical features of three children with Griscelli syndrome and autopsy findings of two are presented. The patients were 5 years, 9 months, and 3 months old, respectively. Clinical features included partial albinism, hepatosplenomegaly, and various neurological symptoms. Light and electron microscopic studies of the skin were compatible with Griscelli syndrome. Postmortem examination of the viscera and central nervous system revealed lymphohistiocytic infiltration with erythrophagocytosis. Bilateral diffuse involvement of the central nervous system, cranial nerve, and spinal cord was detected in both cases. |
doi_str_mv | 10.3109/15513819509026966 |
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The patients were 5 years, 9 months, and 3 months old, respectively. Clinical features included partial albinism, hepatosplenomegaly, and various neurological symptoms. Light and electron microscopic studies of the skin were compatible with Griscelli syndrome. Postmortem examination of the viscera and central nervous system revealed lymphohistiocytic infiltration with erythrophagocytosis. Bilateral diffuse involvement of the central nervous system, cranial nerve, and spinal cord was detected in both cases.</description><identifier>ISSN: 1551-3815</identifier><identifier>ISSN: 1077-1042</identifier><identifier>EISSN: 1551-3823</identifier><identifier>DOI: 10.3109/15513819509026966</identifier><identifier>PMID: 8597818</identifier><language>eng</language><publisher>United States: Informa UK Ltd</publisher><subject>Brain Diseases - pathology ; Child, Preschool ; Consanguinity ; Female ; Griscelli syndrome ; hemophagocytosis ; Histiocytosis, Non-Langerhans-Cell - pathology ; Humans ; Infant ; lymphohistiocytosis ; Male ; Microscopy, Electron ; partial albinism ; Piebaldism - pathology ; Splenomegaly - pathology ; Syndrome</subject><ispartof>Fetal and pediatric pathology, 1995, Vol.15 (2), p.309-319</ispartof><rights>1995 Informa UK Ltd All rights reserved: reproduction in whole or part not permitted 1995</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c345t-c54ed295310592b47da8bd43f54d12f1319fb2a9e671d04a819c57ee4f3f04ca3</citedby><cites>FETCH-LOGICAL-c345t-c54ed295310592b47da8bd43f54d12f1319fb2a9e671d04a819c57ee4f3f04ca3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.tandfonline.com/doi/pdf/10.3109/15513819509026966$$EPDF$$P50$$Ginformaworld$$H</linktopdf><linktohtml>$$Uhttps://www.tandfonline.com/doi/full/10.3109/15513819509026966$$EHTML$$P50$$Ginformaworld$$H</linktohtml><link.rule.ids>315,781,785,4025,27928,27929,27930,59652,60441,61226,61261,61407,61442</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/8597818$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Gö ü, Safiye</creatorcontrib><creatorcontrib>Topçu, Meral</creatorcontrib><creatorcontrib>Küçükali, Türkan</creatorcontrib><creatorcontrib>Akçören, Zuhal</creatorcontrib><creatorcontrib>Berkel, Izzet</creatorcontrib><creatorcontrib>Ersoy, Figen</creatorcontrib><creatorcontrib>Günay, Meral</creatorcontrib><creatorcontrib>Saatçi, I il</creatorcontrib><title>Griscelli syndrome: Report of Three Cases</title><title>Fetal and pediatric pathology</title><addtitle>Pediatr Pathol Lab Med</addtitle><description>The clinical features of three children with Griscelli syndrome and autopsy findings of two are presented. The patients were 5 years, 9 months, and 3 months old, respectively. Clinical features included partial albinism, hepatosplenomegaly, and various neurological symptoms. Light and electron microscopic studies of the skin were compatible with Griscelli syndrome. Postmortem examination of the viscera and central nervous system revealed lymphohistiocytic infiltration with erythrophagocytosis. Bilateral diffuse involvement of the central nervous system, cranial nerve, and spinal cord was detected in both cases.</description><subject>Brain Diseases - pathology</subject><subject>Child, Preschool</subject><subject>Consanguinity</subject><subject>Female</subject><subject>Griscelli syndrome</subject><subject>hemophagocytosis</subject><subject>Histiocytosis, Non-Langerhans-Cell - pathology</subject><subject>Humans</subject><subject>Infant</subject><subject>lymphohistiocytosis</subject><subject>Male</subject><subject>Microscopy, Electron</subject><subject>partial albinism</subject><subject>Piebaldism - pathology</subject><subject>Splenomegaly - pathology</subject><subject>Syndrome</subject><issn>1551-3815</issn><issn>1077-1042</issn><issn>1551-3823</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1995</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kF9LwzAUxYMoc04_gA9CnwQfqkmTNIn6IsN_MBBkPocsvWEdbTOTFtm3t6NjIKJP93LPPYcfB6Fzgq8pweqGcE6oJIpjhbNc5fkBGm9vKZUZPdzvhB-jkxhXGFMhpRihkeRKSCLH6Oo5lNFCVZVJ3DRF8DXcJu-w9qFNvEvmywCQTE2EeIqOnKkinO3mBH08Pc6nL-ns7fl1-jBLLWW8TS1nUGSK93xcZQsmCiMXBaOOs4JkjlCi3CIzCnJBCsxMT2-5AGCOOsysoRN0OeSug__sILa6HghNA76LWgiZZ5jh_pEMjzb4GAM4vQ5lbcJGE6y39ehf9fSei114t6ih2Dt2ffT6_aCXjfOhNl8-VIVuzabywQXT2DJuo_-Ov_thX4Kp2qU1AfTKd6Hpe_sH7hvsi4Nh</recordid><startdate>1995</startdate><enddate>1995</enddate><creator>Gö ü, Safiye</creator><creator>Topçu, Meral</creator><creator>Küçükali, Türkan</creator><creator>Akçören, Zuhal</creator><creator>Berkel, Izzet</creator><creator>Ersoy, Figen</creator><creator>Günay, Meral</creator><creator>Saatçi, I il</creator><general>Informa UK Ltd</general><general>Taylor & Francis</general><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>7X8</scope></search><sort><creationdate>1995</creationdate><title>Griscelli syndrome: Report of Three Cases</title><author>Gö ü, Safiye ; Topçu, Meral ; Küçükali, Türkan ; Akçören, Zuhal ; Berkel, Izzet ; Ersoy, Figen ; Günay, Meral ; Saatçi, I il</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c345t-c54ed295310592b47da8bd43f54d12f1319fb2a9e671d04a819c57ee4f3f04ca3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1995</creationdate><topic>Brain Diseases - pathology</topic><topic>Child, Preschool</topic><topic>Consanguinity</topic><topic>Female</topic><topic>Griscelli syndrome</topic><topic>hemophagocytosis</topic><topic>Histiocytosis, Non-Langerhans-Cell - pathology</topic><topic>Humans</topic><topic>Infant</topic><topic>lymphohistiocytosis</topic><topic>Male</topic><topic>Microscopy, Electron</topic><topic>partial albinism</topic><topic>Piebaldism - pathology</topic><topic>Splenomegaly - pathology</topic><topic>Syndrome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Gö ü, Safiye</creatorcontrib><creatorcontrib>Topçu, Meral</creatorcontrib><creatorcontrib>Küçükali, Türkan</creatorcontrib><creatorcontrib>Akçören, Zuhal</creatorcontrib><creatorcontrib>Berkel, Izzet</creatorcontrib><creatorcontrib>Ersoy, Figen</creatorcontrib><creatorcontrib>Günay, Meral</creatorcontrib><creatorcontrib>Saatçi, I il</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Fetal and pediatric pathology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Gö ü, Safiye</au><au>Topçu, Meral</au><au>Küçükali, Türkan</au><au>Akçören, Zuhal</au><au>Berkel, Izzet</au><au>Ersoy, Figen</au><au>Günay, Meral</au><au>Saatçi, I il</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Griscelli syndrome: Report of Three Cases</atitle><jtitle>Fetal and pediatric pathology</jtitle><addtitle>Pediatr Pathol Lab Med</addtitle><date>1995</date><risdate>1995</risdate><volume>15</volume><issue>2</issue><spage>309</spage><epage>319</epage><pages>309-319</pages><issn>1551-3815</issn><issn>1077-1042</issn><eissn>1551-3823</eissn><abstract>The clinical features of three children with Griscelli syndrome and autopsy findings of two are presented. The patients were 5 years, 9 months, and 3 months old, respectively. Clinical features included partial albinism, hepatosplenomegaly, and various neurological symptoms. Light and electron microscopic studies of the skin were compatible with Griscelli syndrome. Postmortem examination of the viscera and central nervous system revealed lymphohistiocytic infiltration with erythrophagocytosis. Bilateral diffuse involvement of the central nervous system, cranial nerve, and spinal cord was detected in both cases.</abstract><cop>United States</cop><pub>Informa UK Ltd</pub><pmid>8597818</pmid><doi>10.3109/15513819509026966</doi><tpages>11</tpages></addata></record> |
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subjects | Brain Diseases - pathology Child, Preschool Consanguinity Female Griscelli syndrome hemophagocytosis Histiocytosis, Non-Langerhans-Cell - pathology Humans Infant lymphohistiocytosis Male Microscopy, Electron partial albinism Piebaldism - pathology Splenomegaly - pathology Syndrome |
title | Griscelli syndrome: Report of Three Cases |
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