Hypomyelinating leukoencephalopathy with paroxysmal tonic upgaze and absence of psychomotor development
Identifieur interne : 002B89 ( Istex/Curation ); précédent : 002B88; suivant : 002B90Hypomyelinating leukoencephalopathy with paroxysmal tonic upgaze and absence of psychomotor development
Auteurs : Lubov Blumkin [Israël] ; Dorit Lev [Israël] ; Nathan Watemberg [Israël] ; Tally Lerman-Sagie [Israël]Source :
- Movement Disorders [ 0885-3185 ] ; 2007-01-15.
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Abstract
Hypomyelinating leukoencephalopathies are characterized by a substantial and permanent deficit in myelin deposition in the brain. Although our knowledge and understanding of the etiology of white matter diseases has progressively increased, many cases with this disorder remain undiagnosed, despite extensive evaluations. Recently, new disease entities have been defined by combining magnetic resonance imaging pattern recognition and clinical features. We describe a 1‐year‐old Ashkenazi Jewish girl with a hypomyelinating leukoencephalopathy, who presented in the neonatal period with episodes of sustained paroxysmal tonic upward gaze, roving eye movements, pendular nystagmus, and severe hypotonia, with the later appearance of pyramidal and extrapyramidal signs and no development. In addition, she has dysmorphic signs. This clinical picture is not consistent with any of the previously described hypomyelinating leukoencephalopathies and may represent a new entity. © 2006 Movement Disorder Society
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DOI: 10.1002/mds.21277
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Lev</name><affiliation wicri:level="1"><mods:affiliation>Metabolic‐Neurogenetic Clinic, Wolfson Medical Center, Holon, affiliated to Sackler School of Medicine, Tel‐Aviv University, Tel‐Aviv, Israel</mods:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Metabolic‐Neurogenetic Clinic, Wolfson Medical Center, Holon, affiliated to Sackler School of Medicine, Tel‐Aviv University, Tel‐Aviv</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Medical Genetics Institute, Wolfson Medical Center, Holon, affiliated to Sackler School of Medicine, Tel‐Aviv University, Tel‐Aviv, Israel</mods:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Medical Genetics Institute, Wolfson Medical Center, Holon, affiliated to Sackler School of Medicine, Tel‐Aviv University, Tel‐Aviv</wicri:regionArea></affiliation></author><author><name sortKey="Watemberg, Nathan" sort="Watemberg, Nathan" uniqKey="Watemberg N" first="Nathan" last="Watemberg">Nathan 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type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2007-01-15">2007-01-15</date><biblScope unit="vol">22</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="226">226</biblScope><biblScope unit="page" to="230">230</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">E7ED8C7FCB3480899245DA023E4D4ADA5DDE79F9</idno><idno type="DOI">10.1002/mds.21277</idno><idno type="ArticleID">MDS21277</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>extrapyramidal signs</term><term>hypomyelinating leukoencephalopathy</term><term>paroxysmal tonic upward eye deviation</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Hypomyelinating leukoencephalopathies are characterized by a substantial and permanent deficit in myelin deposition in the brain. Although our knowledge and understanding of the etiology of white matter diseases has progressively increased, many cases with this disorder remain undiagnosed, despite extensive evaluations. Recently, new disease entities have been defined by combining magnetic resonance imaging pattern recognition and clinical features. We describe a 1‐year‐old Ashkenazi Jewish girl with a hypomyelinating leukoencephalopathy, who presented in the neonatal period with episodes of sustained paroxysmal tonic upward gaze, roving eye movements, pendular nystagmus, and severe hypotonia, with the later appearance of pyramidal and extrapyramidal signs and no development. In addition, she has dysmorphic signs. This clinical picture is not consistent with any of the previously described hypomyelinating leukoencephalopathies and may represent a new entity. © 2006 Movement Disorder Society</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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