Vanishing White Matter Disease Associated With Ptosis and Myoclonic Seizures
A 5-year-old boy who presented with progressive ataxia, neuroregression, and worsening with febrile illnesses is described. He also had myoclonic jerks and ptosis. His elder sister had died of a similar illness. Serial magnetic resonance imaging of the brain demonstrated extensive abnormality of the...
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| Veröffentlicht in: | Journal of child neurology 2011-03, Vol.26 (3), p.366-368 |
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| container_end_page | 368 |
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| container_issue | 3 |
| container_start_page | 366 |
| container_title | Journal of child neurology |
| container_volume | 26 |
| creator | Sharma, Suvasini Arya, Ravindra Raju, K.N. Vykunta Kumar, Atin Scheper, Gert C. van der Knaap, Marjo S. Gulati, Sheffali |
| description | A 5-year-old boy who presented with progressive ataxia, neuroregression, and worsening with febrile illnesses is described. He also had myoclonic jerks and ptosis. His elder sister had died of a similar illness. Serial magnetic resonance imaging of the brain demonstrated extensive abnormality of the cerebral white matter with rarefaction and cystic degeneration, suggestive of vanishing white matter disease. The patient was found to be compound heterozygous for 2 new mutations in the gene EIF2B5, confirming the diagnosis. |
| doi_str_mv | 10.1177/0883073810381529 |
| format | Article |
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The patient was found to be compound heterozygous for 2 new mutations in the gene EIF2B5, confirming the diagnosis.</description><identifier>ISSN: 0883-0738</identifier><identifier>EISSN: 1708-8283</identifier><identifier>DOI: 10.1177/0883073810381529</identifier><identifier>PMID: 21115745</identifier><language>eng</language><publisher>Los Angeles, CA: SAGE Publications</publisher><subject>Blepharoptosis - complications ; Child, Preschool ; Epilepsies, Myoclonic - complications ; Humans ; Leukoencephalopathies - complications ; Magnetic Resonance Imaging - methods ; Male</subject><ispartof>Journal of child neurology, 2011-03, Vol.26 (3), p.366-368</ispartof><rights>The Author(s) 2011</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c368t-47023cfdcbed607bf5316f8c7c958a01ba88c0f2f7b28efee4f710b930b23a113</citedby><cites>FETCH-LOGICAL-c368t-47023cfdcbed607bf5316f8c7c958a01ba88c0f2f7b28efee4f710b930b23a113</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://journals.sagepub.com/doi/pdf/10.1177/0883073810381529$$EPDF$$P50$$Gsage$$H</linktopdf><linktohtml>$$Uhttps://journals.sagepub.com/doi/10.1177/0883073810381529$$EHTML$$P50$$Gsage$$H</linktohtml><link.rule.ids>314,776,780,21798,27901,27902,43597,43598</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/21115745$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Sharma, Suvasini</creatorcontrib><creatorcontrib>Arya, Ravindra</creatorcontrib><creatorcontrib>Raju, K.N. 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The patient was found to be compound heterozygous for 2 new mutations in the gene EIF2B5, confirming the diagnosis.</description><subject>Blepharoptosis - complications</subject><subject>Child, Preschool</subject><subject>Epilepsies, Myoclonic - complications</subject><subject>Humans</subject><subject>Leukoencephalopathies - complications</subject><subject>Magnetic Resonance Imaging - methods</subject><subject>Male</subject><issn>0883-0738</issn><issn>1708-8283</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2011</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkDtPwzAUhS0EoqWwMyFvTIHrOImdsSpPqRVIPDpGjnPdumqTkpsM5deTqoUBCTFc3eF85wwfY-cCroRQ6hq0lqCkFtBdHKYHrC8U6ECHWh6y_jYOtnmPnRAtAEDHKRyzXiiEiFUU99n43ZSe5r6c8encN8gnpmmw5jee0BDyIVFlvWmw4FPfzPlzU5EnbsqCTzaVXValt_wF_WdbI52yI2eWhGf7P2Bvd7evo4dg_HT_OBqOAysT3QSRglBaV9gciwRU7mIpEqetsmmsDYjcaG3BhU7loUaHGDklIE8l5KE0QsgBu9ztruvqo0VqspUni8ulKbFqKUshihKlYvUvqeNEKJkkUUfCjrR1RVSjy9a1X5l6kwnItrKz37K7ysV-vM1XWPwUvu12QLADyMwwW1RtXXZa_h78AlEchjk</recordid><startdate>20110301</startdate><enddate>20110301</enddate><creator>Sharma, Suvasini</creator><creator>Arya, Ravindra</creator><creator>Raju, K.N. 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| fulltext | fulltext |
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| ispartof | Journal of child neurology, 2011-03, Vol.26 (3), p.366-368 |
| issn | 0883-0738 1708-8283 |
| language | eng |
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| source | MEDLINE; SAGE Complete |
| subjects | Blepharoptosis - complications Child, Preschool Epilepsies, Myoclonic - complications Humans Leukoencephalopathies - complications Magnetic Resonance Imaging - methods Male |
| title | Vanishing White Matter Disease Associated With Ptosis and Myoclonic Seizures |
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