Massive subdural haematomas in Menkes disease mimicking shaken baby syndrome
Menkes disease is an X-linked inherited disorder of intestinal copper absorption resulting in copper deficiency. Cardinal features include hair abnormalities, facial dysmorphism, severe neurological impairment, hypothermia, arterial anomalies, bone abnormalities and a fatal outcome. We present a cas...
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| Veröffentlicht in: | Child's nervous system 2002-12, Vol.18 (12), p.729-731 |
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| creator | NASSOGNE, Marie-Cécile SHARRARD, Mark HERTZ-PANNIER, Lucie ARMENGAUD, Didier TOUATI, Guy DELONLAY-DEBENEY, Pascale ZERAH, Michel BRUNELLE, Francis SAUDUBRAY, Jean-Marie |
| description | Menkes disease is an X-linked inherited disorder of intestinal copper absorption resulting in copper deficiency. Cardinal features include hair abnormalities, facial dysmorphism, severe neurological impairment, hypothermia, arterial anomalies, bone abnormalities and a fatal outcome.
We present a case of Menkes disease complicated by progressive macrocephaly following the development of massive subdural haematomas. These lesions associated with femoral metaphyseal spurs could be confused with nonaccidental injury such as that seen in the shaken baby syndrome.
This case emphasises that Menkes disease, like glutaric aciduria type 1, should be included in the differential diagnosis of unexplained subdural haematomas and neurological deficits in infants. |
| doi_str_mv | 10.1007/s00381-002-0630-z |
| format | Article |
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We present a case of Menkes disease complicated by progressive macrocephaly following the development of massive subdural haematomas. These lesions associated with femoral metaphyseal spurs could be confused with nonaccidental injury such as that seen in the shaken baby syndrome.
This case emphasises that Menkes disease, like glutaric aciduria type 1, should be included in the differential diagnosis of unexplained subdural haematomas and neurological deficits in infants.</description><identifier>ISSN: 0256-7040</identifier><identifier>EISSN: 1433-0350</identifier><identifier>DOI: 10.1007/s00381-002-0630-z</identifier><identifier>PMID: 12483361</identifier><language>eng</language><publisher>Berlin: Springer</publisher><subject>Biological and medical sciences ; Diagnosis, Differential ; Fatal Outcome ; Femur - abnormalities ; Femur - diagnostic imaging ; Hair - abnormalities ; Hematoma, Subdural - diagnosis ; Hematoma, Subdural - etiology ; Humans ; Infant ; Male ; Medical sciences ; Menkes Kinky Hair Syndrome - complications ; Menkes Kinky Hair Syndrome - diagnosis ; Menkes Kinky Hair Syndrome - genetics ; Metabolic diseases ; Metals (hemochromatosis...) ; Other metabolic disorders ; Radiography ; Shaken Baby Syndrome - diagnosis ; Tomography Scanners, X-Ray Computed</subject><ispartof>Child's nervous system, 2002-12, Vol.18 (12), p.729-731</ispartof><rights>2003 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c327t-45e0f4c1c287b144f92cb1ddbe70abb954607a4c5aaad3dd91bdca5ae972dbcd3</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=14393149$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/12483361$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>NASSOGNE, Marie-Cécile</creatorcontrib><creatorcontrib>SHARRARD, Mark</creatorcontrib><creatorcontrib>HERTZ-PANNIER, Lucie</creatorcontrib><creatorcontrib>ARMENGAUD, Didier</creatorcontrib><creatorcontrib>TOUATI, Guy</creatorcontrib><creatorcontrib>DELONLAY-DEBENEY, Pascale</creatorcontrib><creatorcontrib>ZERAH, Michel</creatorcontrib><creatorcontrib>BRUNELLE, Francis</creatorcontrib><creatorcontrib>SAUDUBRAY, Jean-Marie</creatorcontrib><title>Massive subdural haematomas in Menkes disease mimicking shaken baby syndrome</title><title>Child's nervous system</title><addtitle>Childs Nerv Syst</addtitle><description>Menkes disease is an X-linked inherited disorder of intestinal copper absorption resulting in copper deficiency. Cardinal features include hair abnormalities, facial dysmorphism, severe neurological impairment, hypothermia, arterial anomalies, bone abnormalities and a fatal outcome.
We present a case of Menkes disease complicated by progressive macrocephaly following the development of massive subdural haematomas. These lesions associated with femoral metaphyseal spurs could be confused with nonaccidental injury such as that seen in the shaken baby syndrome.
This case emphasises that Menkes disease, like glutaric aciduria type 1, should be included in the differential diagnosis of unexplained subdural haematomas and neurological deficits in infants.</description><subject>Biological and medical sciences</subject><subject>Diagnosis, Differential</subject><subject>Fatal Outcome</subject><subject>Femur - abnormalities</subject><subject>Femur - diagnostic imaging</subject><subject>Hair - abnormalities</subject><subject>Hematoma, Subdural - diagnosis</subject><subject>Hematoma, Subdural - etiology</subject><subject>Humans</subject><subject>Infant</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Menkes Kinky Hair Syndrome - complications</subject><subject>Menkes Kinky Hair Syndrome - diagnosis</subject><subject>Menkes Kinky Hair Syndrome - genetics</subject><subject>Metabolic diseases</subject><subject>Metals (hemochromatosis...)</subject><subject>Other metabolic disorders</subject><subject>Radiography</subject><subject>Shaken Baby Syndrome - diagnosis</subject><subject>Tomography Scanners, X-Ray Computed</subject><issn>0256-7040</issn><issn>1433-0350</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2002</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpFkDtPG0EURkcoCIzhB9BE0yTdhjuP3fGWkUUSJFtpoB7dmbkLE--D7PUimV-PkS25-przneIIcavghwJwdwxgFqoA0AVUBor3MzFT1pgCTAlfxAx0WRUOLFyKK-Z_AKpc6PpCXCptF8ZUaiZWa2TObyR5CmkasZUvSB1uhw5Z5l6uqd8Qy5SZkEl2uctxk_tnyS-4oV4GDDvJuz6NQ0fX4rzBlunmuHPx9Ov-cfmnWP39_bD8uSqi0W5b2JKgsVFFvXBBWdvUOgaVUiAHGEJd2goc2lgiYjIp1SqkiCVS7XQKMZm5-H7wvo7D_4l467vMkdoWexom9k47Z1Vd7UF1AOM4MI_U-NcxdzjuvAL_mdAfEvp9Qv-Z0L_vP1-P8il0lE6PY7M98O0IIEdsmxH7mPnEWVMbZWvzARvve0I</recordid><startdate>20021201</startdate><enddate>20021201</enddate><creator>NASSOGNE, Marie-Cécile</creator><creator>SHARRARD, Mark</creator><creator>HERTZ-PANNIER, Lucie</creator><creator>ARMENGAUD, Didier</creator><creator>TOUATI, Guy</creator><creator>DELONLAY-DEBENEY, Pascale</creator><creator>ZERAH, Michel</creator><creator>BRUNELLE, Francis</creator><creator>SAUDUBRAY, Jean-Marie</creator><general>Springer</general><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>7X8</scope></search><sort><creationdate>20021201</creationdate><title>Massive subdural haematomas in Menkes disease mimicking shaken baby syndrome</title><author>NASSOGNE, Marie-Cécile ; SHARRARD, Mark ; HERTZ-PANNIER, Lucie ; ARMENGAUD, Didier ; TOUATI, Guy ; DELONLAY-DEBENEY, Pascale ; ZERAH, Michel ; BRUNELLE, Francis ; SAUDUBRAY, Jean-Marie</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c327t-45e0f4c1c287b144f92cb1ddbe70abb954607a4c5aaad3dd91bdca5ae972dbcd3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2002</creationdate><topic>Biological and medical sciences</topic><topic>Diagnosis, Differential</topic><topic>Fatal Outcome</topic><topic>Femur - abnormalities</topic><topic>Femur - diagnostic imaging</topic><topic>Hair - abnormalities</topic><topic>Hematoma, Subdural - diagnosis</topic><topic>Hematoma, Subdural - etiology</topic><topic>Humans</topic><topic>Infant</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Menkes Kinky Hair Syndrome - complications</topic><topic>Menkes Kinky Hair Syndrome - diagnosis</topic><topic>Menkes Kinky Hair Syndrome - genetics</topic><topic>Metabolic diseases</topic><topic>Metals (hemochromatosis...)</topic><topic>Other metabolic disorders</topic><topic>Radiography</topic><topic>Shaken Baby Syndrome - diagnosis</topic><topic>Tomography Scanners, X-Ray Computed</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>NASSOGNE, Marie-Cécile</creatorcontrib><creatorcontrib>SHARRARD, Mark</creatorcontrib><creatorcontrib>HERTZ-PANNIER, Lucie</creatorcontrib><creatorcontrib>ARMENGAUD, Didier</creatorcontrib><creatorcontrib>TOUATI, Guy</creatorcontrib><creatorcontrib>DELONLAY-DEBENEY, Pascale</creatorcontrib><creatorcontrib>ZERAH, Michel</creatorcontrib><creatorcontrib>BRUNELLE, Francis</creatorcontrib><creatorcontrib>SAUDUBRAY, Jean-Marie</creatorcontrib><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>MEDLINE - Academic</collection><jtitle>Child's nervous system</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>NASSOGNE, Marie-Cécile</au><au>SHARRARD, Mark</au><au>HERTZ-PANNIER, Lucie</au><au>ARMENGAUD, Didier</au><au>TOUATI, Guy</au><au>DELONLAY-DEBENEY, Pascale</au><au>ZERAH, Michel</au><au>BRUNELLE, Francis</au><au>SAUDUBRAY, Jean-Marie</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Massive subdural haematomas in Menkes disease mimicking shaken baby syndrome</atitle><jtitle>Child's nervous system</jtitle><addtitle>Childs Nerv Syst</addtitle><date>2002-12-01</date><risdate>2002</risdate><volume>18</volume><issue>12</issue><spage>729</spage><epage>731</epage><pages>729-731</pages><issn>0256-7040</issn><eissn>1433-0350</eissn><abstract>Menkes disease is an X-linked inherited disorder of intestinal copper absorption resulting in copper deficiency. Cardinal features include hair abnormalities, facial dysmorphism, severe neurological impairment, hypothermia, arterial anomalies, bone abnormalities and a fatal outcome.
We present a case of Menkes disease complicated by progressive macrocephaly following the development of massive subdural haematomas. These lesions associated with femoral metaphyseal spurs could be confused with nonaccidental injury such as that seen in the shaken baby syndrome.
This case emphasises that Menkes disease, like glutaric aciduria type 1, should be included in the differential diagnosis of unexplained subdural haematomas and neurological deficits in infants.</abstract><cop>Berlin</cop><pub>Springer</pub><pmid>12483361</pmid><doi>10.1007/s00381-002-0630-z</doi><tpages>3</tpages></addata></record> |
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| subjects | Biological and medical sciences Diagnosis, Differential Fatal Outcome Femur - abnormalities Femur - diagnostic imaging Hair - abnormalities Hematoma, Subdural - diagnosis Hematoma, Subdural - etiology Humans Infant Male Medical sciences Menkes Kinky Hair Syndrome - complications Menkes Kinky Hair Syndrome - diagnosis Menkes Kinky Hair Syndrome - genetics Metabolic diseases Metals (hemochromatosis...) Other metabolic disorders Radiography Shaken Baby Syndrome - diagnosis Tomography Scanners, X-Ray Computed |
| title | Massive subdural haematomas in Menkes disease mimicking shaken baby syndrome |
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