MovDisordV3, PascalFrancis, Corpus, bibRecord, 001804

Hypomyelinating leukoencephalopathy with paroxysmal tonic upgaze and absence of psychomotor development

Identifieur interne : 001804 ( PascalFrancis/Corpus ); précédent : 001803; suivant : 001805

Hypomyelinating leukoencephalopathy with paroxysmal tonic upgaze and absence of psychomotor development

Auteurs : Lubov Blumkin ; Dorit Lev ; Nathan Watemberg ; Tally Lerman-Sagie

Source :

Movement disorders [ 0885-3185 ] ; 2007.

RBID : Pascal:07-0133248

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Leucoencéphalopathie, Extrapyramidal syndrome, Déviation oeil, Développement psychomoteur, Signe.

English descriptors

KwdEn :
- Extrapyramidal syndrome, Eye deviation, Leucoencephalopathy, Nervous system diseases, Psychomotor development, Sign.

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.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

A01	`01`	`1`		`@0 0885-3185`
A03		`1`		`@0 Mov. disord.`
A05				`@2 22`
A06				`@2 2`
A08	`01`	`1`	`ENG`	`@1 Hypomyelinating leukoencephalopathy with paroxysmal tonic upgaze and absence of psychomotor development`
A11	`01`	`1`		`@1 BLUMKIN (Lubov)`
A11	`02`	`1`		`@1 LEV (Dorit)`
A11	`03`	`1`		`@1 WATEMBERG (Nathan)`
A11	`04`	`1`		`@1 LERMAN-SAGIE (Tally)`
A14	`01`			`@1 Pediatric Neurology Unit, Wolfson Medical Center @2 Holon @3 ISR @Z 1 aut. @Z 3 aut. @Z 4 aut.`
A14	`02`			`@1 Sackler School of Medicine, Tel-Aviv University @2 Tel-Aviv @3 ISR @Z 1 aut. @Z 2 aut. @Z 3 aut. @Z 4 aut.`
A14	`03`			`@1 Metabolic -Neurogenetic Clinic, Wolfson Medical Center @2 Holon @3 ISR @Z 1 aut. @Z 2 aut. @Z 3 aut. @Z 4 aut.`
A14	`04`			`@1 Medical Genetics Institute, Wolfson Medical Center @2 Holon @3 ISR @Z 2 aut.`
A20				`@1 226-230`
A21				`@1 2007`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 20953 @5 354000145528070130`
A44				`@0 0000 @1 © 2007 INIST-CNRS. All rights reserved.`
A45				`@0 30 ref.`
A47	`01`	`1`		`@0 07-0133248`
A60				`@1 P @3 CC`
A61				`@0 A`
A64	`01`	`1`		`@0 Movement disorders`
A66	`01`			`@0 USA`
C01	`01`		`ENG`	@0 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.
C02	`01`	`X`		`@0 002B17`
C02	`02`	`X`		`@0 002A25L`
C02	`03`	`X`		`@0 002B17A03`
C03	`01`	`X`	`FRE`	`@0 Système nerveux pathologie @5 01`
C03	`01`	`X`	`ENG`	`@0 Nervous system diseases @5 01`
C03	`01`	`X`	`SPA`	`@0 Sistema nervioso patología @5 01`
C03	`02`	`X`	`FRE`	`@0 Leucoencéphalopathie @2 NM @5 02`
C03	`02`	`X`	`ENG`	`@0 Leucoencephalopathy @2 NM @5 02`
C03	`02`	`X`	`SPA`	`@0 Leucoencefalopatía @2 NM @5 02`
C03	`03`	`X`	`FRE`	`@0 Extrapyramidal syndrome @5 03`
C03	`03`	`X`	`ENG`	`@0 Extrapyramidal syndrome @5 03`
C03	`03`	`X`	`SPA`	`@0 Extrapiramidal síndrome @5 03`
C03	`04`	`X`	`FRE`	`@0 Déviation oeil @2 NM @5 04`
C03	`04`	`X`	`ENG`	`@0 Eye deviation @2 NM @5 04`
C03	`04`	`X`	`SPA`	`@0 Desviación ojo @2 NM @5 04`
C03	`05`	`X`	`FRE`	`@0 Développement psychomoteur @5 09`
C03	`05`	`X`	`ENG`	`@0 Psychomotor development @5 09`
C03	`05`	`X`	`SPA`	`@0 Desarrollo psicomotor @5 09`
C03	`06`	`X`	`FRE`	`@0 Signe @5 10`
C03	`06`	`X`	`ENG`	`@0 Sign @5 10`
C03	`06`	`X`	`SPA`	`@0 Signo @5 10`
C07	`01`	`X`	`FRE`	`@0 Encéphale pathologie @5 37`
C07	`01`	`X`	`ENG`	`@0 Cerebral disorder @5 37`
C07	`01`	`X`	`SPA`	`@0 Encéfalo patología @5 37`
C07	`02`	`X`	`FRE`	`@0 Système nerveux central pathologie @5 38`
C07	`02`	`X`	`ENG`	`@0 Central nervous system disease @5 38`
C07	`02`	`X`	`SPA`	`@0 Sistema nervosio central patología @5 38`
C07	`03`	`X`	`FRE`	`@0 Oculomotricité syndrome @5 39`
C07	`03`	`X`	`ENG`	`@0 Oculomotor syndrome @5 39`
C07	`03`	`X`	`SPA`	`@0 Oculomotricidad síndrome @5 39`
C07	`04`	`X`	`FRE`	`@0 Oeil pathologie @5 40`
C07	`04`	`X`	`ENG`	`@0 Eye disease @5 40`
C07	`04`	`X`	`SPA`	`@0 Ojo patología @5 40`
N21				`@1 085`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

Format Inist (serveur)

NO :	PASCAL 07-0133248 INIST
ET :	Hypomyelinating leukoencephalopathy with paroxysmal tonic upgaze and absence of psychomotor development
AU :	BLUMKIN (Lubov); LEV (Dorit); WATEMBERG (Nathan); LERMAN-SAGIE (Tally)
AF :	Pediatric Neurology Unit, Wolfson Medical Center/Holon/Israël (1 aut., 3 aut., 4 aut.); Sackler School of Medicine, Tel-Aviv University/Tel-Aviv/Israël (1 aut., 2 aut., 3 aut., 4 aut.); Metabolic -Neurogenetic Clinic, Wolfson Medical Center/Holon/Israël (1 aut., 2 aut., 3 aut., 4 aut.); Medical Genetics Institute, Wolfson Medical Center/Holon/Israël (2 aut.)
DT :	Publication en série; Courte communication, note brève; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2007; Vol. 22; No. 2; Pp. 226-230; Bibl. 30 ref.
LA :	Anglais
EA :	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.
CC :	002B17; 002A25L; 002B17A03
FD :	Système nerveux pathologie; Leucoencéphalopathie; Extrapyramidal syndrome; Déviation oeil; Développement psychomoteur; Signe
FG :	Encéphale pathologie; Système nerveux central pathologie; Oculomotricité syndrome; Oeil pathologie
ED :	Nervous system diseases; Leucoencephalopathy; Extrapyramidal syndrome; Eye deviation; Psychomotor development; Sign
EG :	Cerebral disorder; Central nervous system disease; Oculomotor syndrome; Eye disease
SD :	Sistema nervioso patología; Leucoencefalopatía; Extrapiramidal síndrome; Desviación ojo; Desarrollo psicomotor; Signo
LO :	INIST-20953.354000145528070130
ID :	07-0133248

Links to Exploration step

Pascal:07-0133248

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Hypomyelinating leukoencephalopathy with paroxysmal tonic upgaze and absence of psychomotor development</title>
<author><name sortKey="Blumkin, Lubov" sort="Blumkin, Lubov" uniqKey="Blumkin L" first="Lubov" last="Blumkin">Lubov Blumkin</name>
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<s2>Holon</s2>
<s3>ISR</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
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<s2>Tel-Aviv</s2>
<s3>ISR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
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<affiliation><inist:fA14 i1="03"><s1>Metabolic -Neurogenetic Clinic, Wolfson Medical Center</s1>
<s2>Holon</s2>
<s3>ISR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
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</author>
<author><name sortKey="Lev, Dorit" sort="Lev, Dorit" uniqKey="Lev D" first="Dorit" last="Lev">Dorit Lev</name>
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<s2>Tel-Aviv</s2>
<s3>ISR</s3>
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<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="03"><s1>Metabolic -Neurogenetic Clinic, Wolfson Medical Center</s1>
<s2>Holon</s2>
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<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
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</affiliation>
<affiliation><inist:fA14 i1="04"><s1>Medical Genetics Institute, Wolfson Medical Center</s1>
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<author><name sortKey="Watemberg, Nathan" sort="Watemberg, Nathan" uniqKey="Watemberg N" first="Nathan" last="Watemberg">Nathan Watemberg</name>
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<s3>ISR</s3>
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</affiliation>
<affiliation><inist:fA14 i1="02"><s1>Sackler School of Medicine, Tel-Aviv University</s1>
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<affiliation><inist:fA14 i1="03"><s1>Metabolic -Neurogenetic Clinic, Wolfson Medical Center</s1>
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<s3>ISR</s3>
<sZ>1 aut.</sZ>
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<sZ>3 aut.</sZ>
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</author>
<author><name sortKey="Lerman Sagie, Tally" sort="Lerman Sagie, Tally" uniqKey="Lerman Sagie T" first="Tally" last="Lerman-Sagie">Tally Lerman-Sagie</name>
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<s3>ISR</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
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<sZ>1 aut.</sZ>
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<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="03"><s1>Metabolic -Neurogenetic Clinic, Wolfson Medical Center</s1>
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<sZ>1 aut.</sZ>
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<sZ>3 aut.</sZ>
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<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
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<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.</div>
</front>
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<fA11 i1="01" i2="1"><s1>BLUMKIN (Lubov)</s1>
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<fA11 i1="02" i2="1"><s1>LEV (Dorit)</s1>
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<fA11 i1="03" i2="1"><s1>WATEMBERG (Nathan)</s1>
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<fA11 i1="04" i2="1"><s1>LERMAN-SAGIE (Tally)</s1>
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<fA14 i1="01"><s1>Pediatric Neurology Unit, Wolfson Medical Center</s1>
<s2>Holon</s2>
<s3>ISR</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
</fA14>
<fA14 i1="02"><s1>Sackler School of Medicine, Tel-Aviv University</s1>
<s2>Tel-Aviv</s2>
<s3>ISR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
</fA14>
<fA14 i1="03"><s1>Metabolic -Neurogenetic Clinic, Wolfson Medical Center</s1>
<s2>Holon</s2>
<s3>ISR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
</fA14>
<fA14 i1="04"><s1>Medical Genetics Institute, Wolfson Medical Center</s1>
<s2>Holon</s2>
<s3>ISR</s3>
<sZ>2 aut.</sZ>
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<fA20><s1>226-230</s1>
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<fA45><s0>30 ref.</s0>
</fA45>
<fA47 i1="01" i2="1"><s0>07-0133248</s0>
</fA47>
<fA60><s1>P</s1>
<s3>CC</s3>
</fA60>
<fA61><s0>A</s0>
</fA61>
<fA64 i1="01" i2="1"><s0>Movement disorders</s0>
</fA64>
<fA66 i1="01"><s0>USA</s0>
</fA66>
<fC01 i1="01" l="ENG"><s0>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.</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002B17</s0>
</fC02>
<fC02 i1="02" i2="X"><s0>002A25L</s0>
</fC02>
<fC02 i1="03" i2="X"><s0>002B17A03</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE"><s0>Système nerveux pathologie</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Leucoencéphalopathie</s0>
<s2>NM</s2>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Leucoencephalopathy</s0>
<s2>NM</s2>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Leucoencefalopatía</s0>
<s2>NM</s2>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Extrapyramidal syndrome</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0>
<s5>03</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Déviation oeil</s0>
<s2>NM</s2>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Eye deviation</s0>
<s2>NM</s2>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Desviación ojo</s0>
<s2>NM</s2>
<s5>04</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Développement psychomoteur</s0>
<s5>09</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Psychomotor development</s0>
<s5>09</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Desarrollo psicomotor</s0>
<s5>09</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Signe</s0>
<s5>10</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Sign</s0>
<s5>10</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Signo</s0>
<s5>10</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Encéphale pathologie</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Cerebral disorder</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Encéfalo patología</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Système nerveux central pathologie</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Oculomotricité syndrome</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Oculomotor syndrome</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Oculomotricidad síndrome</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Oeil pathologie</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Eye disease</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Ojo patología</s0>
<s5>40</s5>
</fC07>
<fN21><s1>085</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
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<server><NO>PASCAL 07-0133248 INIST</NO>
<ET>Hypomyelinating leukoencephalopathy with paroxysmal tonic upgaze and absence of psychomotor development</ET>
<AU>BLUMKIN (Lubov); LEV (Dorit); WATEMBERG (Nathan); LERMAN-SAGIE (Tally)</AU>
<AF>Pediatric Neurology Unit, Wolfson Medical Center/Holon/Israël (1 aut., 3 aut., 4 aut.); Sackler School of Medicine, Tel-Aviv University/Tel-Aviv/Israël (1 aut., 2 aut., 3 aut., 4 aut.); Metabolic -Neurogenetic Clinic, Wolfson Medical Center/Holon/Israël (1 aut., 2 aut., 3 aut., 4 aut.); Medical Genetics Institute, Wolfson Medical Center/Holon/Israël (2 aut.)</AF>
<DT>Publication en série; Courte communication, note brève; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2007; Vol. 22; No. 2; Pp. 226-230; Bibl. 30 ref.</SO>
<LA>Anglais</LA>
<EA>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.</EA>
<CC>002B17; 002A25L; 002B17A03</CC>
<FD>Système nerveux pathologie; Leucoencéphalopathie; Extrapyramidal syndrome; Déviation oeil; Développement psychomoteur; Signe</FD>
<FG>Encéphale pathologie; Système nerveux central pathologie; Oculomotricité syndrome; Oeil pathologie</FG>
<ED>Nervous system diseases; Leucoencephalopathy; Extrapyramidal syndrome; Eye deviation; Psychomotor development; Sign</ED>
<EG>Cerebral disorder; Central nervous system disease; Oculomotor syndrome; Eye disease</EG>
<SD>Sistema nervioso patología; Leucoencefalopatía; Extrapiramidal síndrome; Desviación ojo; Desarrollo psicomotor; Signo</SD>
<LO>INIST-20953.354000145528070130</LO>
<ID>07-0133248</ID>
</server>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Hypomyelinating leukoencephalopathy with paroxysmal tonic upgaze and absence of psychomotor development

Hypomyelinating leukoencephalopathy with paroxysmal tonic upgaze and absence of psychomotor development

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