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Patterns of Magnetic Resonance Imaging Abnormalities in Symptomatic Patients With Krabbe Disease Correspond to Phenotype
Abstract Background Initial magnetic resonance imaging studies of individuals with Krabbe disease were analyzed to determine whether the pattern of abnormalities corresponded to the phenotype. Methods This was a retrospective, nonblinded study. Families/patients diagnosed with Krabbe disease submitt...
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| Published in: | Pediatric neurology 2014-02, Vol.50 (2), p.127-134 |
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| creator | Abdelhalim, Ahmed N., MD Alberico, Ronald A., MD Barczykowski, Amy L., MS Duffner, Patricia K., MD |
| description | Abstract Background Initial magnetic resonance imaging studies of individuals with Krabbe disease were analyzed to determine whether the pattern of abnormalities corresponded to the phenotype. Methods This was a retrospective, nonblinded study. Families/patients diagnosed with Krabbe disease submitted medical records and magnetic resonance imaging discs for central review. Institutional review board approval/informed consents were obtained. Sixty-four magnetic resonance imaging scans were reviewed by two neuroradiologists and a child neurologist according to phenotype: early infantile (onset 0-6 months) = 39 patients; late infantile (onset 7-12 months) = 10 patients; later onset (onset 13 months-10 years) = 11 patients; adolescent (onset 11-20 years) = one patient; and adult (21 years or greater) = three patients. Local interpretations were compared with central review. Results Magnetic resonance imaging abnormalities differed among phenotypes. Early infantile patients had a predominance of increased intensity in the dentate/cerebellar white matter as well as changes in the deep cerebral white matter. Later onset patients did not demonstrate involvement in the dentate/cerebellar white matter but had extensive involvement of the deep cerebral white matter, parieto-occipital region, and posterior corpus callosum. Late infantile patients exhibited a mixed pattern; 40% had dentate/cerebellar white matter involvement while all had involvement of the deep cerebral white matter. Adolescent/adult patients demonstrated isolated corticospinal tract involvement. Local and central reviews primarily differed in interpretation of the early infantile phenotype. Conclusion Analysis of magnetic resonance imaging in a large cohort of symptomatic patients with Krabbe disease demonstrated imaging abnormalities correspond to specific phenotypes. Knowledge of these patterns along with typical clinical signs/symptoms should promote earlier diagnosis and facilitate treatment. |
| doi_str_mv | 10.1016/j.pediatrneurol.2013.10.001 |
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Methods This was a retrospective, nonblinded study. Families/patients diagnosed with Krabbe disease submitted medical records and magnetic resonance imaging discs for central review. Institutional review board approval/informed consents were obtained. Sixty-four magnetic resonance imaging scans were reviewed by two neuroradiologists and a child neurologist according to phenotype: early infantile (onset 0-6 months) = 39 patients; late infantile (onset 7-12 months) = 10 patients; later onset (onset 13 months-10 years) = 11 patients; adolescent (onset 11-20 years) = one patient; and adult (21 years or greater) = three patients. Local interpretations were compared with central review. Results Magnetic resonance imaging abnormalities differed among phenotypes. Early infantile patients had a predominance of increased intensity in the dentate/cerebellar white matter as well as changes in the deep cerebral white matter. Later onset patients did not demonstrate involvement in the dentate/cerebellar white matter but had extensive involvement of the deep cerebral white matter, parieto-occipital region, and posterior corpus callosum. Late infantile patients exhibited a mixed pattern; 40% had dentate/cerebellar white matter involvement while all had involvement of the deep cerebral white matter. Adolescent/adult patients demonstrated isolated corticospinal tract involvement. Local and central reviews primarily differed in interpretation of the early infantile phenotype. Conclusion Analysis of magnetic resonance imaging in a large cohort of symptomatic patients with Krabbe disease demonstrated imaging abnormalities correspond to specific phenotypes. Knowledge of these patterns along with typical clinical signs/symptoms should promote earlier diagnosis and facilitate treatment.</description><identifier>ISSN: 0887-8994</identifier><identifier>EISSN: 1873-5150</identifier><identifier>DOI: 10.1016/j.pediatrneurol.2013.10.001</identifier><identifier>PMID: 24262341</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Adolescent ; Age of Onset ; age-related findings ; Brain - pathology ; Cerebellum - pathology ; Cerebrum - pathology ; Child ; Child, Preschool ; Humans ; Infant ; Infant, Newborn ; Krabbe disease ; Krabbe phenotypes ; Leukodystrophy, Globoid Cell - pathology ; Magnetic Resonance Imaging ; MRI ; Nerve Fibers, Myelinated - pathology ; Neurology ; Pediatrics ; Pyramidal Tracts - pathology ; Retrospective Studies ; Young Adult</subject><ispartof>Pediatric neurology, 2014-02, Vol.50 (2), p.127-134</ispartof><rights>Elsevier Inc.</rights><rights>2014 Elsevier Inc.</rights><rights>Copyright © 2014 Elsevier Inc. All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c471t-b92074b46e83327bd8e70de5d82f07be291d58617372d489366ef576a445abb63</citedby><cites>FETCH-LOGICAL-c471t-b92074b46e83327bd8e70de5d82f07be291d58617372d489366ef576a445abb63</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>315,783,787,27936,27937</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/24262341$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Abdelhalim, Ahmed N., MD</creatorcontrib><creatorcontrib>Alberico, Ronald A., MD</creatorcontrib><creatorcontrib>Barczykowski, Amy L., MS</creatorcontrib><creatorcontrib>Duffner, Patricia K., MD</creatorcontrib><title>Patterns of Magnetic Resonance Imaging Abnormalities in Symptomatic Patients With Krabbe Disease Correspond to Phenotype</title><title>Pediatric neurology</title><addtitle>Pediatr Neurol</addtitle><description>Abstract Background Initial magnetic resonance imaging studies of individuals with Krabbe disease were analyzed to determine whether the pattern of abnormalities corresponded to the phenotype. Methods This was a retrospective, nonblinded study. Families/patients diagnosed with Krabbe disease submitted medical records and magnetic resonance imaging discs for central review. Institutional review board approval/informed consents were obtained. Sixty-four magnetic resonance imaging scans were reviewed by two neuroradiologists and a child neurologist according to phenotype: early infantile (onset 0-6 months) = 39 patients; late infantile (onset 7-12 months) = 10 patients; later onset (onset 13 months-10 years) = 11 patients; adolescent (onset 11-20 years) = one patient; and adult (21 years or greater) = three patients. Local interpretations were compared with central review. Results Magnetic resonance imaging abnormalities differed among phenotypes. Early infantile patients had a predominance of increased intensity in the dentate/cerebellar white matter as well as changes in the deep cerebral white matter. Later onset patients did not demonstrate involvement in the dentate/cerebellar white matter but had extensive involvement of the deep cerebral white matter, parieto-occipital region, and posterior corpus callosum. Late infantile patients exhibited a mixed pattern; 40% had dentate/cerebellar white matter involvement while all had involvement of the deep cerebral white matter. Adolescent/adult patients demonstrated isolated corticospinal tract involvement. Local and central reviews primarily differed in interpretation of the early infantile phenotype. Conclusion Analysis of magnetic resonance imaging in a large cohort of symptomatic patients with Krabbe disease demonstrated imaging abnormalities correspond to specific phenotypes. Knowledge of these patterns along with typical clinical signs/symptoms should promote earlier diagnosis and facilitate treatment.</description><subject>Adolescent</subject><subject>Age of Onset</subject><subject>age-related findings</subject><subject>Brain - pathology</subject><subject>Cerebellum - pathology</subject><subject>Cerebrum - pathology</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Humans</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Krabbe disease</subject><subject>Krabbe phenotypes</subject><subject>Leukodystrophy, Globoid Cell - pathology</subject><subject>Magnetic Resonance Imaging</subject><subject>MRI</subject><subject>Nerve Fibers, Myelinated - pathology</subject><subject>Neurology</subject><subject>Pediatrics</subject><subject>Pyramidal Tracts - pathology</subject><subject>Retrospective Studies</subject><subject>Young Adult</subject><issn>0887-8994</issn><issn>1873-5150</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2014</creationdate><recordtype>article</recordtype><recordid>eNqNkk9v1DAQxSMEokvhKyBLXLhksR3_i5CQqqVARREVBXG0HGd26yWxU9tB7LfH0RYkuMBpDvObN6P3pqqeEbwmmIgX-_UEvTM5ephjGNYUk6Z01hiTe9WKKNnUnHB8v1phpWSt2padVI9S2mOMeUvZw-qEMipow8iq-nFlcoboEwpb9MHsPGRn0SdIwRtvAV2MZuf8Dp11PsTRDC47SMh5dH0YpxxGs-BFw4HPCX11-Qa9j6brAL12CUwCtAkxQpqC71EO6OoGfMiHCR5XD7ZmSPDkrp5WX96cf968qy8_vr3YnF3WlkmS666lWLKOCVBNQ2XXK5C4B94rusWyA9qSnitBZCNpz1TbCAFbLoVhjJczRHNaPT_qTjHczpCyHl2yMAzGQ5iTJpwIyZUk5N8oa7HETHBa0JdH1MaQUoStnqIbTTxogvWSkt7rP1LSS0pLs6RUpp_eLZq7Efrfs79iKcD5EYDizHcHUSdbHLZFMYLNug_uPxe9-kvHDs47a4ZvcIC0D3P0xXxNdKIa6-vlYZZ_IQ3GghDe_ASL68Dn</recordid><startdate>20140201</startdate><enddate>20140201</enddate><creator>Abdelhalim, Ahmed N., MD</creator><creator>Alberico, Ronald A., MD</creator><creator>Barczykowski, Amy L., MS</creator><creator>Duffner, Patricia K., MD</creator><general>Elsevier Inc</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><scope>7TK</scope></search><sort><creationdate>20140201</creationdate><title>Patterns of Magnetic Resonance Imaging Abnormalities in Symptomatic Patients With Krabbe Disease Correspond to Phenotype</title><author>Abdelhalim, Ahmed N., MD ; Alberico, Ronald A., MD ; Barczykowski, Amy L., MS ; Duffner, Patricia K., MD</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c471t-b92074b46e83327bd8e70de5d82f07be291d58617372d489366ef576a445abb63</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2014</creationdate><topic>Adolescent</topic><topic>Age of Onset</topic><topic>age-related findings</topic><topic>Brain - pathology</topic><topic>Cerebellum - pathology</topic><topic>Cerebrum - pathology</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Humans</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>Krabbe disease</topic><topic>Krabbe phenotypes</topic><topic>Leukodystrophy, Globoid Cell - pathology</topic><topic>Magnetic Resonance Imaging</topic><topic>MRI</topic><topic>Nerve Fibers, Myelinated - pathology</topic><topic>Neurology</topic><topic>Pediatrics</topic><topic>Pyramidal Tracts - pathology</topic><topic>Retrospective Studies</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Abdelhalim, Ahmed N., MD</creatorcontrib><creatorcontrib>Alberico, Ronald A., MD</creatorcontrib><creatorcontrib>Barczykowski, Amy L., MS</creatorcontrib><creatorcontrib>Duffner, Patricia K., MD</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><collection>Neurosciences Abstracts</collection><jtitle>Pediatric neurology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Abdelhalim, Ahmed N., MD</au><au>Alberico, Ronald A., MD</au><au>Barczykowski, Amy L., MS</au><au>Duffner, Patricia K., MD</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Patterns of Magnetic Resonance Imaging Abnormalities in Symptomatic Patients With Krabbe Disease Correspond to Phenotype</atitle><jtitle>Pediatric neurology</jtitle><addtitle>Pediatr Neurol</addtitle><date>2014-02-01</date><risdate>2014</risdate><volume>50</volume><issue>2</issue><spage>127</spage><epage>134</epage><pages>127-134</pages><issn>0887-8994</issn><eissn>1873-5150</eissn><abstract>Abstract Background Initial magnetic resonance imaging studies of individuals with Krabbe disease were analyzed to determine whether the pattern of abnormalities corresponded to the phenotype. Methods This was a retrospective, nonblinded study. Families/patients diagnosed with Krabbe disease submitted medical records and magnetic resonance imaging discs for central review. Institutional review board approval/informed consents were obtained. Sixty-four magnetic resonance imaging scans were reviewed by two neuroradiologists and a child neurologist according to phenotype: early infantile (onset 0-6 months) = 39 patients; late infantile (onset 7-12 months) = 10 patients; later onset (onset 13 months-10 years) = 11 patients; adolescent (onset 11-20 years) = one patient; and adult (21 years or greater) = three patients. Local interpretations were compared with central review. Results Magnetic resonance imaging abnormalities differed among phenotypes. Early infantile patients had a predominance of increased intensity in the dentate/cerebellar white matter as well as changes in the deep cerebral white matter. Later onset patients did not demonstrate involvement in the dentate/cerebellar white matter but had extensive involvement of the deep cerebral white matter, parieto-occipital region, and posterior corpus callosum. Late infantile patients exhibited a mixed pattern; 40% had dentate/cerebellar white matter involvement while all had involvement of the deep cerebral white matter. Adolescent/adult patients demonstrated isolated corticospinal tract involvement. Local and central reviews primarily differed in interpretation of the early infantile phenotype. Conclusion Analysis of magnetic resonance imaging in a large cohort of symptomatic patients with Krabbe disease demonstrated imaging abnormalities correspond to specific phenotypes. Knowledge of these patterns along with typical clinical signs/symptoms should promote earlier diagnosis and facilitate treatment.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>24262341</pmid><doi>10.1016/j.pediatrneurol.2013.10.001</doi><tpages>8</tpages></addata></record> |
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| subjects | Adolescent Age of Onset age-related findings Brain - pathology Cerebellum - pathology Cerebrum - pathology Child Child, Preschool Humans Infant Infant, Newborn Krabbe disease Krabbe phenotypes Leukodystrophy, Globoid Cell - pathology Magnetic Resonance Imaging MRI Nerve Fibers, Myelinated - pathology Neurology Pediatrics Pyramidal Tracts - pathology Retrospective Studies Young Adult |
| title | Patterns of Magnetic Resonance Imaging Abnormalities in Symptomatic Patients With Krabbe Disease Correspond to Phenotype |
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