Menkes' disease: case report
Menkes disease is a rare neurodegenerative disorder due to an intracellular defect of a copper transport protein. We describe a 7 months male patient who presented with seizures, hypoactivity and absence of visual contact. The investigation disclosed pilli torti and thrycorrexis nodosa in the hair,...
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| Veröffentlicht in: | Arquivos de neuro-psiquiatria 2007-03, Vol.65 (1), p.157-160 |
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| container_title | Arquivos de neuro-psiquiatria |
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| creator | Agertt, Fabio Crippa, Ana C S Lorenzoni, Paulo J Scola, Rosana H Bruck, Isac Paola, Luciano de Silvado, Carlos E Werneck, Lineu C |
| description | Menkes disease is a rare neurodegenerative disorder due to an intracellular defect of a copper transport protein. We describe a 7 months male patient who presented with seizures, hypoactivity and absence of visual contact. The investigation disclosed pilli torti and thrycorrexis nodosa in the hair, low serum levels of both copper and ceruloplasmin, brain magnetic resonance study showed atrophy and white matter hypointensities on T1-weighted images, electroencephalogram reveals moderate background activity disorganization and epileptiform activity, and muscle biopsy with type 2 fiber atrophy. The clinical, laboratorial, genetic, muscle biopsy and neurophysiological findings in Menkes disease are discussed. |
| doi_str_mv | 10.1590/S0004-282X2007000100032 |
| format | Article |
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We describe a 7 months male patient who presented with seizures, hypoactivity and absence of visual contact. The investigation disclosed pilli torti and thrycorrexis nodosa in the hair, low serum levels of both copper and ceruloplasmin, brain magnetic resonance study showed atrophy and white matter hypointensities on T1-weighted images, electroencephalogram reveals moderate background activity disorganization and epileptiform activity, and muscle biopsy with type 2 fiber atrophy. 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We describe a 7 months male patient who presented with seizures, hypoactivity and absence of visual contact. The investigation disclosed pilli torti and thrycorrexis nodosa in the hair, low serum levels of both copper and ceruloplasmin, brain magnetic resonance study showed atrophy and white matter hypointensities on T1-weighted images, electroencephalogram reveals moderate background activity disorganization and epileptiform activity, and muscle biopsy with type 2 fiber atrophy. The clinical, laboratorial, genetic, muscle biopsy and neurophysiological findings in Menkes disease are discussed.</description><subject>Ceruloplasmin - analysis</subject><subject>Copper - blood</subject><subject>Electroencephalography</subject><subject>Electromyography</subject><subject>Humans</subject><subject>Infant</subject><subject>Magnetic Resonance Imaging</subject><subject>Male</subject><subject>Menkes Kinky Hair Syndrome - blood</subject><subject>Menkes Kinky Hair Syndrome - diagnosis</subject><subject>NEUROSCIENCES</subject><subject>PSYCHIATRY</subject><issn>0004-282X</issn><issn>1678-4227</issn><issn>0004-282X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2007</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFUMlKA0EQbUQxMfoHojnpaWL1Mr14C8ENIh5U8NZ091Rg4iQTu2cO_r0TE1QQ9FAbVa_eqyLklMKI5gYuHgFAZEyzFwaguoJ2xtkO6X81dn_kPXKQ0hyACWPUPulRJRhoofrk-B6Xr5jOh0WZ0CW8HIbODyOu6tgckr2ZqxIebeOAPF9fPU1us-nDzd1kPM2C4NBknimtPTfAJATUUgXjjNfBBWmE0zkvaFASDcWQ-2BmjhdeaKPyXFH0mPMBGW32plBiVdt53cZlR2g_z7S_zuwAZxvAKtZvLabGLsoUsKrcEus2WQVccqHkv4MMGAcJawlqMxhinVLEmV3FcuHiu6Vg1y__Q8vJlqL1Cyy-cdsf8w-yWXcv</recordid><startdate>20070301</startdate><enddate>20070301</enddate><creator>Agertt, Fabio</creator><creator>Crippa, Ana C S</creator><creator>Lorenzoni, Paulo J</creator><creator>Scola, Rosana H</creator><creator>Bruck, Isac</creator><creator>Paola, Luciano de</creator><creator>Silvado, Carlos E</creator><creator>Werneck, Lineu C</creator><general>Academia Brasileira de Neurologia - ABNEURO</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>7T7</scope><scope>7TK</scope><scope>8FD</scope><scope>C1K</scope><scope>FR3</scope><scope>P64</scope><scope>7X8</scope><scope>GPN</scope></search><sort><creationdate>20070301</creationdate><title>Menkes' disease: case report</title><author>Agertt, Fabio ; Crippa, Ana C S ; Lorenzoni, Paulo J ; Scola, Rosana H ; Bruck, Isac ; Paola, Luciano de ; Silvado, Carlos E ; Werneck, Lineu C</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c430t-b2788b390260ce867c9a9b8cac694a853d1c76e91ec5bc9fa3db48975571ebe53</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2007</creationdate><topic>Ceruloplasmin - analysis</topic><topic>Copper - blood</topic><topic>Electroencephalography</topic><topic>Electromyography</topic><topic>Humans</topic><topic>Infant</topic><topic>Magnetic Resonance Imaging</topic><topic>Male</topic><topic>Menkes Kinky Hair Syndrome - blood</topic><topic>Menkes Kinky Hair Syndrome - diagnosis</topic><topic>NEUROSCIENCES</topic><topic>PSYCHIATRY</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Agertt, Fabio</creatorcontrib><creatorcontrib>Crippa, Ana C S</creatorcontrib><creatorcontrib>Lorenzoni, Paulo J</creatorcontrib><creatorcontrib>Scola, Rosana H</creatorcontrib><creatorcontrib>Bruck, Isac</creatorcontrib><creatorcontrib>Paola, Luciano de</creatorcontrib><creatorcontrib>Silvado, Carlos E</creatorcontrib><creatorcontrib>Werneck, Lineu C</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Industrial and Applied Microbiology Abstracts (Microbiology A)</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Environmental Sciences and Pollution Management</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>MEDLINE - Academic</collection><collection>SciELO</collection><jtitle>Arquivos de neuro-psiquiatria</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Agertt, Fabio</au><au>Crippa, Ana C S</au><au>Lorenzoni, Paulo J</au><au>Scola, Rosana H</au><au>Bruck, Isac</au><au>Paola, Luciano de</au><au>Silvado, Carlos E</au><au>Werneck, Lineu C</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Menkes' disease: case report</atitle><jtitle>Arquivos de neuro-psiquiatria</jtitle><addtitle>Arq Neuropsiquiatr</addtitle><date>2007-03-01</date><risdate>2007</risdate><volume>65</volume><issue>1</issue><spage>157</spage><epage>160</epage><pages>157-160</pages><issn>0004-282X</issn><issn>1678-4227</issn><eissn>0004-282X</eissn><abstract>Menkes disease is a rare neurodegenerative disorder due to an intracellular defect of a copper transport protein. 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| language | eng |
| recordid | cdi_scielo_journals_S0004_282X2007000100032 |
| source | MEDLINE; DOAJ Directory of Open Access Journals; EZB-FREE-00999 freely available EZB journals |
| subjects | Ceruloplasmin - analysis Copper - blood Electroencephalography Electromyography Humans Infant Magnetic Resonance Imaging Male Menkes Kinky Hair Syndrome - blood Menkes Kinky Hair Syndrome - diagnosis NEUROSCIENCES PSYCHIATRY |
| title | Menkes' disease: case report |
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