Infantile-onset megalencephalic leucoencephalopathy in two siblings

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dc.authoridKutlu, Nurettin Onur/0000-0002-3306-6570
dc.authoridSeven, Mehmet/0000-0001-7878-2039
dc.authoridYüksel, Atıl/0000-0002-6487-0860
dc.authoridYuksel, Adnan/0000-0002-7275-8254
dc.authorwosidKutlu, Nurettin Onur/AAW-6196-2021
dc.authorwosidSeven, Mehmet/E-1017-2019
dc.authorwosidYüksel, Atıl/AAE-5442-2020
dc.contributor.authorSoylu, H
dc.contributor.authorYüksel, A
dc.contributor.authorKutlu, NO
dc.contributor.authorAydinli, M
dc.contributor.authorSeven, M
dc.contributor.authorMocan, H
dc.date.accessioned2024-08-04T20:12:07Z
dc.date.available2024-08-04T20:12:07Z
dc.date.issued2000
dc.departmentİnönü Üniversitesien_US
dc.description.abstractInfantile-onset megalencephalic. leucoencephalopathy (IML) is a recently recognized autosomal recessive white matter disorder. Unlike other megalencephalic leucoencephalopathies, in patients with IML a mild clinical course, a slowly progressive delay in motor development and mild mental deterioration are typical. We report on two affected siblings who have typical clinical and radiological findings of IML. Cranial magnetic resonance imaging showed involvement of the capsula externa, extrema and interna, nucleus dentatus, cnrs cerebri, periventricular and subcortical white matter. In addition, bilateral cystic changes were determined predominantly in the temporal lobes. There were no clear biochemical or metabolic disturbances. In the present paper, we discuss the clinical and neuroimaging findings of IML.en_US
dc.identifier.doi10.1046/j.1440-1754.2000.00522.x
dc.identifier.endpage602en_US
dc.identifier.issn1034-4810
dc.identifier.issue6en_US
dc.identifier.pmid11115041en_US
dc.identifier.scopus2-s2.0-0033659599en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage598en_US
dc.identifier.urihttps://doi.org/10.1046/j.1440-1754.2000.00522.x
dc.identifier.urihttps://hdl.handle.net/11616/93212
dc.identifier.volume36en_US
dc.identifier.wosWOS:000165993500018en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherBlackwell Science Asiaen_US
dc.relation.ispartofJournal of Paediatrics and Child Healthen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectinfancyen_US
dc.subjectleucoencephalopathyen_US
dc.subjectmegalencephalyen_US
dc.titleInfantile-onset megalencephalic leucoencephalopathy in two siblingsen_US
dc.typeArticleen_US

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