Leukodystrophy associated with oligodontia in a large inbred family: Fortuitous association or new entity?
Identifieur interne : 000281 ( France/Analysis ); précédent : 000280; suivant : 000282Leukodystrophy associated with oligodontia in a large inbred family: Fortuitous association or new entity?
Auteurs : Salim Atrouni [Liban] ; Antoine Darazé [Liban] ; Jean Tamraz [Liban] ; Antoine Cassia [Liban] ; Catherine Caillaud [France] ; André Mégarbané [Liban, France]Source :
- American Journal of Medical Genetics Part A [ 1552-4825 ] ; 2003-04-01.
Descripteurs français
- Wicri :
- geographic : Liban.
English descriptors
- KwdEn :
- Abnormal, Abnormal gait, Abnormal teeth, Abnormality, Beirut, Cortical atrophy, Deciduous, Deciduous teeth, Degeneration, Differential diagnosis, Enophthalmia, Family members, Fortuitous association, Krabbe disease, Lebanon, Lebanon service, Leukodystrophies, Leukodystrophy, Lower limbs, Magnetic resonance imaging, Metachromatic leukodystrophy, Muscle strength, Neurological, Neurological examination, Oligodontia, Permanent teeth, Present family, Sib, Single gene, Slight enophthalmia, Tendinous, Unremarkable, Vibratory sense, White matter.
- Teeft :
- Abnormal, Abnormal gait, Abnormal teeth, Abnormality, Beirut, Cortical atrophy, Deciduous, Deciduous teeth, Degeneration, Differential diagnosis, Enophthalmia, Family members, Fortuitous association, Krabbe disease, Lebanon, Lebanon service, Leukodystrophies, Leukodystrophy, Lower limbs, Magnetic resonance imaging, Metachromatic leukodystrophy, Muscle strength, Neurological, Neurological examination, Oligodontia, Permanent teeth, Present family, Sib, Single gene, Slight enophthalmia, Tendinous, Unremarkable, Vibratory sense, White matter.
Abstract
We describe a large inbred Syrian pedigree with an autosomal recessive neurodegenerative disorder. The clinical picture of the affected patients is oligodontia, and a degenerative neurological condition with onset around age 12, characterized by progressive ataxia and pyramidal syndrome. Abnormalities in the white matter and cortical atrophy were assessed by magnetic resonance imaging. Differential diagnosis and the possibility of a fortuitous association or the report of a hitherto unreported dento‐leukoencephalopathy are discussed. © 2003 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/ajmg.a.10019
Affiliations:
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Faculté de Médecine, Université Saint‐Joseph. 42, rue de Grenelle, 75007 Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">American Journal of Medical Genetics Part A</title><title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS</title><idno type="ISSN">1552-4825</idno><idno type="eISSN">1552-4833</idno><imprint><biblScope unit="vol">118A</biblScope><biblScope unit="issue">1</biblScope><biblScope unit="page" from="76">76</biblScope><biblScope unit="page" to="81">81</biblScope><biblScope unit="page-count">6</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><date type="published" when="2003-04-01">2003-04-01</date></imprint><idno type="ISSN">1552-4825</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1552-4825</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Abnormal</term><term>Abnormal gait</term><term>Abnormal teeth</term><term>Abnormality</term><term>Beirut</term><term>Cortical atrophy</term><term>Deciduous</term><term>Deciduous teeth</term><term>Degeneration</term><term>Differential diagnosis</term><term>Enophthalmia</term><term>Family members</term><term>Fortuitous association</term><term>Krabbe disease</term><term>Lebanon</term><term>Lebanon service</term><term>Leukodystrophies</term><term>Leukodystrophy</term><term>Lower limbs</term><term>Magnetic resonance imaging</term><term>Metachromatic leukodystrophy</term><term>Muscle strength</term><term>Neurological</term><term>Neurological examination</term><term>Oligodontia</term><term>Permanent teeth</term><term>Present family</term><term>Sib</term><term>Single gene</term><term>Slight enophthalmia</term><term>Tendinous</term><term>Unremarkable</term><term>Vibratory sense</term><term>White matter</term></keywords><keywords scheme="Teeft" xml:lang="en"><term>Abnormal</term><term>Abnormal gait</term><term>Abnormal teeth</term><term>Abnormality</term><term>Beirut</term><term>Cortical atrophy</term><term>Deciduous</term><term>Deciduous teeth</term><term>Degeneration</term><term>Differential diagnosis</term><term>Enophthalmia</term><term>Family members</term><term>Fortuitous association</term><term>Krabbe disease</term><term>Lebanon</term><term>Lebanon service</term><term>Leukodystrophies</term><term>Leukodystrophy</term><term>Lower limbs</term><term>Magnetic resonance imaging</term><term>Metachromatic leukodystrophy</term><term>Muscle strength</term><term>Neurological</term><term>Neurological examination</term><term>Oligodontia</term><term>Permanent teeth</term><term>Present family</term><term>Sib</term><term>Single gene</term><term>Slight enophthalmia</term><term>Tendinous</term><term>Unremarkable</term><term>Vibratory sense</term><term>White matter</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Liban</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We describe a large inbred Syrian pedigree with an autosomal recessive neurodegenerative disorder. The clinical picture of the affected patients is oligodontia, and a degenerative neurological condition with onset around age 12, characterized by progressive ataxia and pyramidal syndrome. Abnormalities in the white matter and cortical atrophy were assessed by magnetic resonance imaging. Differential diagnosis and the possibility of a fortuitous association or the report of a hitherto unreported dento‐leukoencephalopathy are discussed. © 2003 Wiley‐Liss, Inc.</div></front></TEI><affiliations><list><country><li>France</li><li>Liban</li></country><region><li>Île-de-France</li></region><settlement><li>Paris</li></settlement></list><tree><country name="Liban"><noRegion><name sortKey="Atrouni, Salim" sort="Atrouni, Salim" uniqKey="Atrouni S" first="Salim" last="Atrouni">Salim Atrouni</name></noRegion><name sortKey="Cassia, Antoine" sort="Cassia, Antoine" uniqKey="Cassia A" first="Antoine" last="Cassia">Antoine Cassia</name><name sortKey="Daraze, Antoine" sort="Daraze, Antoine" uniqKey="Daraze A" first="Antoine" last="Darazé">Antoine Darazé</name><name sortKey="Megarbane, Andre" sort="Megarbane, Andre" uniqKey="Megarbane A" first="André" last="Mégarbané">André Mégarbané</name><name sortKey="Megarbane, Andre" sort="Megarbane, Andre" uniqKey="Megarbane A" first="André" last="Mégarbané">André Mégarbané</name><name sortKey="Tamraz, Jean" sort="Tamraz, Jean" uniqKey="Tamraz J" first="Jean" last="Tamraz">Jean Tamraz</name></country><country name="France"><region name="Île-de-France"><name sortKey="Caillaud, Catherine" sort="Caillaud, Catherine" uniqKey="Caillaud C" first="Catherine" last="Caillaud">Catherine Caillaud</name></region><name sortKey="Megarbane, Andre" sort="Megarbane, Andre" uniqKey="Megarbane A" first="André" last="Mégarbané">André Mégarbané</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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