RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.
Identifieur interne : 000499 ( PubMed/Checkpoint ); précédent : 000498; suivant : 000500RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.
Auteurs : Nicole Ulrick [États-Unis] ; Amy Goldstein [États-Unis] ; Cas Simons [Australie] ; Ryan J. Taft [États-Unis] ; Guy Helman [États-Unis] ; Amy Pizzino [États-Unis] ; Miriam Bloom [États-Unis] ; Julie Vogt [Royaume-Uni] ; Karen Pysden [Royaume-Uni] ; Daria Diodato [Italie] ; Diego Martinelli [Italie] ; Ahmad Monavari [Irlande (pays)] ; Daniela Buhas [Canada] ; Clara D M. Van Karnebeek [Canada] ; Imen Dorboz [France] ; Odile Boespflug-Tanguy [France] ; Diana Rodriguez [France] ; Martine Tétreault [Canada] ; Jacek Majewski [Canada] ; Genevieve Bernard [Canada] ; Yi Shiau Ng [Royaume-Uni] ; Robert Mcfarland [Royaume-Uni] ; Adeline Vanderver [États-Unis]Source :
- Pediatric neurology [ 1873-5150 ] ; 2017.
Abstract
Leukoencephalopathy with temporal lobe cysts may be associated with monogenetic conditions such as Aicardi-Goutières syndrome or RNASET2 mutations and with congenital infections such as cytomegalovirus. In view of the fact that congenital cytomegalovirus is difficult to confirm outside the neonatal period, excluding a Mendelian disorder is extremely relevant, changing family planning and medical management in affected families. We performed diagnostic testing in individuals with leukoencephalopathy with temporal lobe cysts without a definitive diagnosis of congenital cytomegalovirus infection.
DOI: 10.1016/j.pediatrneurol.2016.09.003
PubMed: 27843092
Affiliations:
- Australie, Canada, France, Irlande (pays), Italie, Royaume-Uni, États-Unis
- Angleterre, District de Columbia, Latium, Midlands de l'Ouest, Pennsylvanie, Québec, Île-de-France
- Birmingham, Montréal, Paris, Rome
- Université McGill
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<author><name sortKey="Bloom, Miriam" sort="Bloom, Miriam" uniqKey="Bloom M" first="Miriam" last="Bloom">Miriam Bloom</name>
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<author><name sortKey="Vogt, Julie" sort="Vogt, Julie" uniqKey="Vogt J" first="Julie" last="Vogt">Julie Vogt</name>
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<author><name sortKey="Pysden, Karen" sort="Pysden, Karen" uniqKey="Pysden K" first="Karen" last="Pysden">Karen Pysden</name>
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<author><name sortKey="Diodato, Daria" sort="Diodato, Daria" uniqKey="Diodato D" first="Daria" last="Diodato">Daria Diodato</name>
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<author><name sortKey="Martinelli, Diego" sort="Martinelli, Diego" uniqKey="Martinelli D" first="Diego" last="Martinelli">Diego Martinelli</name>
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<author><name sortKey="Monavari, Ahmad" sort="Monavari, Ahmad" uniqKey="Monavari A" first="Ahmad" last="Monavari">Ahmad Monavari</name>
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<author><name sortKey="Buhas, Daniela" sort="Buhas, Daniela" uniqKey="Buhas D" first="Daniela" last="Buhas">Daniela Buhas</name>
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<country xml:lang="fr">Canada</country>
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<author><name sortKey="Van Karnebeek, Clara D M" sort="Van Karnebeek, Clara D M" uniqKey="Van Karnebeek C" first="Clara D M" last="Van Karnebeek">Clara D M. Van Karnebeek</name>
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<author><name sortKey="Dorboz, Imen" sort="Dorboz, Imen" uniqKey="Dorboz I" first="Imen" last="Dorboz">Imen Dorboz</name>
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<author><name sortKey="Boespflug Tanguy, Odile" sort="Boespflug Tanguy, Odile" uniqKey="Boespflug Tanguy O" first="Odile" last="Boespflug-Tanguy">Odile Boespflug-Tanguy</name>
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<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM UMR 1141, DHU PROTECT, Paris Diderot University, Sorbonne Paris Cité, France; AP-HP, Department of Neuropediatrics and Metabolic Diseases, National Reference Center for Leukodystrophies, Robert Debré Hospital, Paris</wicri:regionArea>
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<author><name sortKey="Rodriguez, Diana" sort="Rodriguez, Diana" uniqKey="Rodriguez D" first="Diana" last="Rodriguez">Diana Rodriguez</name>
<affiliation wicri:level="3"><nlm:affiliation>INSERM UMR 1141, DHU PROTECT, Paris Diderot University, Sorbonne Paris Cité, France; APHP, Department of Neuropediatrics, National Reference Center for Neurogenetic Disorders, Hôpital Armand-Trousseau, GHUEP, Paris, France; GRC ConCer-LD, Sorbonne Universités, UPMC Université Paris 06, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM UMR 1141, DHU PROTECT, Paris Diderot University, Sorbonne Paris Cité, France; APHP, Department of Neuropediatrics, National Reference Center for Neurogenetic Disorders, Hôpital Armand-Trousseau, GHUEP, Paris, France; GRC ConCer-LD, Sorbonne Universités, UPMC Université Paris 06, Paris</wicri:regionArea>
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<author><name sortKey="Majewski, Jacek" sort="Majewski, Jacek" uniqKey="Majewski J" first="Jacek" last="Majewski">Jacek Majewski</name>
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<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Human Genetics, McGill University, Montreal, Quebec, Canada; McGill University and Genome Quebec Innovation Center, Montreal, Quebec</wicri:regionArea>
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<author><name sortKey="Bernard, Genevieve" sort="Bernard, Genevieve" uniqKey="Bernard G" first="Genevieve" last="Bernard">Genevieve Bernard</name>
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<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Center, Montreal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada; Department of Pediatrics McGill University, Montreal, Quebec, Canada; Child Health and Human Development Program, Research Institute of the McGill University Health Center, Montreal, Quebec</wicri:regionArea>
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<author><name sortKey="Ng, Yi Shiau" sort="Ng, Yi Shiau" uniqKey="Ng Y" first="Yi Shiau" last="Ng">Yi Shiau Ng</name>
<affiliation wicri:level="1"><nlm:affiliation>Wellcome Trust Centre for Mitochondrial Research, Newcastle University, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Wellcome Trust Centre for Mitochondrial Research, Newcastle University</wicri:regionArea>
<wicri:noRegion>Newcastle University</wicri:noRegion>
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</author>
<author><name sortKey="Mcfarland, Robert" sort="Mcfarland, Robert" uniqKey="Mcfarland R" first="Robert" last="Mcfarland">Robert Mcfarland</name>
<affiliation wicri:level="1"><nlm:affiliation>Wellcome Trust Centre for Mitochondrial Research, Newcastle University, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Wellcome Trust Centre for Mitochondrial Research, Newcastle University</wicri:regionArea>
<wicri:noRegion>Newcastle University</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Vanderver, Adeline" sort="Vanderver, Adeline" uniqKey="Vanderver A" first="Adeline" last="Vanderver">Adeline Vanderver</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Neurology, Children's National Medical Center, Washington, DC; Department of Integrated Systems Biology, George Washington University, Washington, DC; Department of Pediatrics, George Washington University, Washington, DC. Electronic address: avanderv@childrensnational.org.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">District de Columbia</region>
</placeName>
<wicri:cityArea>Department of Neurology, Children's National Medical Center, Washington, DC; Department of Integrated Systems Biology, George Washington University, Washington, DC; Department of Pediatrics, George Washington University, Washington</wicri:cityArea>
</affiliation>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.</title>
<author><name sortKey="Ulrick, Nicole" sort="Ulrick, Nicole" uniqKey="Ulrick N" first="Nicole" last="Ulrick">Nicole Ulrick</name>
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<author><name sortKey="Goldstein, Amy" sort="Goldstein, Amy" uniqKey="Goldstein A" first="Amy" last="Goldstein">Amy Goldstein</name>
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<author><name sortKey="Simons, Cas" sort="Simons, Cas" uniqKey="Simons C" first="Cas" last="Simons">Cas Simons</name>
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<author><name sortKey="Taft, Ryan J" sort="Taft, Ryan J" uniqKey="Taft R" first="Ryan J" last="Taft">Ryan J. Taft</name>
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<country xml:lang="fr">États-Unis</country>
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</affiliation>
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<author><name sortKey="Helman, Guy" sort="Helman, Guy" uniqKey="Helman G" first="Guy" last="Helman">Guy Helman</name>
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</placeName>
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<author><name sortKey="Pizzino, Amy" sort="Pizzino, Amy" uniqKey="Pizzino A" first="Amy" last="Pizzino">Amy Pizzino</name>
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<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">District de Columbia</region>
</placeName>
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</affiliation>
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<author><name sortKey="Bloom, Miriam" sort="Bloom, Miriam" uniqKey="Bloom M" first="Miriam" last="Bloom">Miriam Bloom</name>
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<country xml:lang="fr">États-Unis</country>
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</placeName>
<wicri:cityArea>Department of Neurology, Children's National Medical Center, Washington</wicri:cityArea>
</affiliation>
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<author><name sortKey="Vogt, Julie" sort="Vogt, Julie" uniqKey="Vogt J" first="Julie" last="Vogt">Julie Vogt</name>
<affiliation wicri:level="3"><nlm:affiliation>West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham</wicri:regionArea>
<placeName><settlement type="city">Birmingham</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Midlands de l'Ouest</region>
</placeName>
</affiliation>
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<author><name sortKey="Pysden, Karen" sort="Pysden, Karen" uniqKey="Pysden K" first="Karen" last="Pysden">Karen Pysden</name>
<affiliation wicri:level="1"><nlm:affiliation>Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, Leeds, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, Leeds</wicri:regionArea>
<wicri:noRegion>Leeds</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Diodato, Daria" sort="Diodato, Daria" uniqKey="Diodato D" first="Daria" last="Diodato">Daria Diodato</name>
<affiliation wicri:level="3"><nlm:affiliation>Muscular and Neurodegenerative Disorders Unit, Ospedale Pediatrico Bambino Gesu, Rome, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Muscular and Neurodegenerative Disorders Unit, Ospedale Pediatrico Bambino Gesu, Rome</wicri:regionArea>
<placeName><settlement type="city">Rome</settlement>
<region nuts="2">Latium</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Martinelli, Diego" sort="Martinelli, Diego" uniqKey="Martinelli D" first="Diego" last="Martinelli">Diego Martinelli</name>
<affiliation wicri:level="3"><nlm:affiliation>Division of Metabolism, Bambino Gesu' Children's Hospital, IRCCS, Rome, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Division of Metabolism, Bambino Gesu' Children's Hospital, IRCCS, Rome</wicri:regionArea>
<placeName><settlement type="city">Rome</settlement>
<region nuts="2">Latium</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Monavari, Ahmad" sort="Monavari, Ahmad" uniqKey="Monavari A" first="Ahmad" last="Monavari">Ahmad Monavari</name>
<affiliation wicri:level="1"><nlm:affiliation>Temple Street Children's University Hospital, Dublin, Ireland.</nlm:affiliation>
<country xml:lang="fr">Irlande (pays)</country>
<wicri:regionArea>Temple Street Children's University Hospital, Dublin</wicri:regionArea>
<wicri:noRegion>Dublin</wicri:noRegion>
</affiliation>
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<author><name sortKey="Buhas, Daniela" sort="Buhas, Daniela" uniqKey="Buhas D" first="Daniela" last="Buhas">Daniela Buhas</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Center, Montreal, Quebec, Canada; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Center, Montreal, Quebec, Canada; Department of Human Genetics, McGill University, Montreal, Quebec</wicri:regionArea>
<wicri:noRegion>Quebec</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Van Karnebeek, Clara D M" sort="Van Karnebeek, Clara D M" uniqKey="Van Karnebeek C" first="Clara D M" last="Van Karnebeek">Clara D M. Van Karnebeek</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, University of British Columbia, Vancouver, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Pediatrics, Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, University of British Columbia, Vancouver</wicri:regionArea>
<wicri:noRegion>Vancouver</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Dorboz, Imen" sort="Dorboz, Imen" uniqKey="Dorboz I" first="Imen" last="Dorboz">Imen Dorboz</name>
<affiliation wicri:level="1"><nlm:affiliation>INSERM UMR 1141, DHU PROTECT, Paris Diderot University, Sorbonne Paris Cité, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM UMR 1141, DHU PROTECT, Paris Diderot University, Sorbonne Paris Cité</wicri:regionArea>
<wicri:noRegion>Sorbonne Paris Cité</wicri:noRegion>
<wicri:noRegion>Sorbonne Paris Cité</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Boespflug Tanguy, Odile" sort="Boespflug Tanguy, Odile" uniqKey="Boespflug Tanguy O" first="Odile" last="Boespflug-Tanguy">Odile Boespflug-Tanguy</name>
<affiliation wicri:level="3"><nlm:affiliation>INSERM UMR 1141, DHU PROTECT, Paris Diderot University, Sorbonne Paris Cité, France; AP-HP, Department of Neuropediatrics and Metabolic Diseases, National Reference Center for Leukodystrophies, Robert Debré Hospital, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM UMR 1141, DHU PROTECT, Paris Diderot University, Sorbonne Paris Cité, France; AP-HP, Department of Neuropediatrics and Metabolic Diseases, National Reference Center for Leukodystrophies, Robert Debré Hospital, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Rodriguez, Diana" sort="Rodriguez, Diana" uniqKey="Rodriguez D" first="Diana" last="Rodriguez">Diana Rodriguez</name>
<affiliation wicri:level="3"><nlm:affiliation>INSERM UMR 1141, DHU PROTECT, Paris Diderot University, Sorbonne Paris Cité, France; APHP, Department of Neuropediatrics, National Reference Center for Neurogenetic Disorders, Hôpital Armand-Trousseau, GHUEP, Paris, France; GRC ConCer-LD, Sorbonne Universités, UPMC Université Paris 06, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM UMR 1141, DHU PROTECT, Paris Diderot University, Sorbonne Paris Cité, France; APHP, Department of Neuropediatrics, National Reference Center for Neurogenetic Disorders, Hôpital Armand-Trousseau, GHUEP, Paris, France; GRC ConCer-LD, Sorbonne Universités, UPMC Université Paris 06, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Tetreault, Martine" sort="Tetreault, Martine" uniqKey="Tetreault M" first="Martine" last="Tétreault">Martine Tétreault</name>
<affiliation wicri:level="4"><nlm:affiliation>Department of Human Genetics, McGill University, Montreal, Quebec, Canada; McGill University and Genome Quebec Innovation Center, Montreal, Quebec, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Human Genetics, McGill University, Montreal, Quebec, Canada; McGill University and Genome Quebec Innovation Center, Montreal, Quebec</wicri:regionArea>
<orgName type="university">Université McGill</orgName>
<placeName><settlement type="city">Montréal</settlement>
<region type="state">Québec</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Majewski, Jacek" sort="Majewski, Jacek" uniqKey="Majewski J" first="Jacek" last="Majewski">Jacek Majewski</name>
<affiliation wicri:level="4"><nlm:affiliation>Department of Human Genetics, McGill University, Montreal, Quebec, Canada; McGill University and Genome Quebec Innovation Center, Montreal, Quebec, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Human Genetics, McGill University, Montreal, Quebec, Canada; McGill University and Genome Quebec Innovation Center, Montreal, Quebec</wicri:regionArea>
<orgName type="university">Université McGill</orgName>
<placeName><settlement type="city">Montréal</settlement>
<region type="state">Québec</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bernard, Genevieve" sort="Bernard, Genevieve" uniqKey="Bernard G" first="Genevieve" last="Bernard">Genevieve Bernard</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Center, Montreal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada; Department of Pediatrics McGill University, Montreal, Quebec, Canada; Child Health and Human Development Program, Research Institute of the McGill University Health Center, Montreal, Quebec, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Center, Montreal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada; Department of Pediatrics McGill University, Montreal, Quebec, Canada; Child Health and Human Development Program, Research Institute of the McGill University Health Center, Montreal, Quebec</wicri:regionArea>
<wicri:noRegion>Quebec</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ng, Yi Shiau" sort="Ng, Yi Shiau" uniqKey="Ng Y" first="Yi Shiau" last="Ng">Yi Shiau Ng</name>
<affiliation wicri:level="1"><nlm:affiliation>Wellcome Trust Centre for Mitochondrial Research, Newcastle University, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Wellcome Trust Centre for Mitochondrial Research, Newcastle University</wicri:regionArea>
<wicri:noRegion>Newcastle University</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mcfarland, Robert" sort="Mcfarland, Robert" uniqKey="Mcfarland R" first="Robert" last="Mcfarland">Robert Mcfarland</name>
<affiliation wicri:level="1"><nlm:affiliation>Wellcome Trust Centre for Mitochondrial Research, Newcastle University, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Wellcome Trust Centre for Mitochondrial Research, Newcastle University</wicri:regionArea>
<wicri:noRegion>Newcastle University</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Vanderver, Adeline" sort="Vanderver, Adeline" uniqKey="Vanderver A" first="Adeline" last="Vanderver">Adeline Vanderver</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Neurology, Children's National Medical Center, Washington, DC; Department of Integrated Systems Biology, George Washington University, Washington, DC; Department of Pediatrics, George Washington University, Washington, DC. Electronic address: avanderv@childrensnational.org.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">District de Columbia</region>
</placeName>
<wicri:cityArea>Department of Neurology, Children's National Medical Center, Washington, DC; Department of Integrated Systems Biology, George Washington University, Washington, DC; Department of Pediatrics, George Washington University, Washington</wicri:cityArea>
</affiliation>
</author>
</analytic>
<series><title level="j">Pediatric neurology</title>
<idno type="eISSN">1873-5150</idno>
<imprint><date when="2017" type="published">2017</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Leukoencephalopathy with temporal lobe cysts may be associated with monogenetic conditions such as Aicardi-Goutières syndrome or RNASET2 mutations and with congenital infections such as cytomegalovirus. In view of the fact that congenital cytomegalovirus is difficult to confirm outside the neonatal period, excluding a Mendelian disorder is extremely relevant, changing family planning and medical management in affected families. We performed diagnostic testing in individuals with leukoencephalopathy with temporal lobe cysts without a definitive diagnosis of congenital cytomegalovirus infection.</div>
</front>
</TEI>
<pubmed><MedlineCitation Status="In-Process" Owner="NLM"><PMID Version="1">27843092</PMID>
<DateCreated><Year>2016</Year>
<Month>11</Month>
<Day>15</Day>
</DateCreated>
<DateRevised><Year>2017</Year>
<Month>01</Month>
<Day>03</Day>
</DateRevised>
<Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1873-5150</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>66</Volume>
<PubDate><Year>2017</Year>
<Month>Jan</Month>
</PubDate>
</JournalIssue>
<Title>Pediatric neurology</Title>
<ISOAbbreviation>Pediatr. Neurol.</ISOAbbreviation>
</Journal>
<ArticleTitle>RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.</ArticleTitle>
<Pagination><MedlinePgn>59-62</MedlinePgn>
</Pagination>
<ELocationID EIdType="pii" ValidYN="Y">S0887-8994(16)30580-X</ELocationID>
<ELocationID EIdType="doi" ValidYN="Y">10.1016/j.pediatrneurol.2016.09.003</ELocationID>
<Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Leukoencephalopathy with temporal lobe cysts may be associated with monogenetic conditions such as Aicardi-Goutières syndrome or RNASET2 mutations and with congenital infections such as cytomegalovirus. In view of the fact that congenital cytomegalovirus is difficult to confirm outside the neonatal period, excluding a Mendelian disorder is extremely relevant, changing family planning and medical management in affected families. We performed diagnostic testing in individuals with leukoencephalopathy with temporal lobe cysts without a definitive diagnosis of congenital cytomegalovirus infection.</AbstractText>
<AbstractText Label="METHODS" NlmCategory="METHODS">We reviewed a large-scale biorepository of patients with unsolved leukodystrophies and identified two individuals with required for meiotic nuclear division 1 (RMND1) mutations and similar magnetic resonance imaging (MRI) features, including temporal lobe cysts. Ten additional subjects with confirmed RMND1 mutations were identified as part of a separate disease specific cohort. Brain MRIs from all 12 individuals were reviewed for common neuroradiological features.</AbstractText>
<AbstractText Label="RESULTS" NlmCategory="RESULTS">MRI features in RMND1 mutations included temporal lobe swelling, with rarefaction and cystic evolution, enlarged tips of the temporal lobes, and multifocal subcortical white matter changes with confluent periatrial T2 signal hyperintensity. A combination of these features was present in ten of the 12 individuals reviewed.</AbstractText>
<AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">Despite the small number of reported individuals with RMND1 mutations, a clinically recognizable phenotype of leukoencephalopathy with temporal lobe swelling, rarefaction, and cystic changes has emerged in a subset of individuals. Careful clinical phenotyping, including for lactic acidosis, deafness, and severe muscle involvement seen in RMND1 mutation positive individuals, and MRI pattern recognition will be important in differentiating these patients from children with congenital infections like cytomegalovirus.</AbstractText>
<CopyrightInformation>Copyright © 2016 Elsevier Inc. All rights reserved.</CopyrightInformation>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Ulrick</LastName>
<ForeName>Nicole</ForeName>
<Initials>N</Initials>
<AffiliationInfo><Affiliation>Department of Neurology, Children's National Medical Center, Washington, DC.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Goldstein</LastName>
<ForeName>Amy</ForeName>
<Initials>A</Initials>
<AffiliationInfo><Affiliation>Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Simons</LastName>
<ForeName>Cas</ForeName>
<Initials>C</Initials>
<AffiliationInfo><Affiliation>Institute for Molecular Bioscience, University of Queensland, St. Lucia, Queensland, Australia.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Taft</LastName>
<ForeName>Ryan J</ForeName>
<Initials>RJ</Initials>
<AffiliationInfo><Affiliation>Institute for Molecular Bioscience, University of Queensland, St. Lucia, Queensland, Australia; Illumina Inc, San Diego, California; School of Medicine and Health Sciences, The George Washington University, Washington, DC.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Helman</LastName>
<ForeName>Guy</ForeName>
<Initials>G</Initials>
<AffiliationInfo><Affiliation>Department of Neurology, Children's National Medical Center, Washington, DC.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Pizzino</LastName>
<ForeName>Amy</ForeName>
<Initials>A</Initials>
<AffiliationInfo><Affiliation>Department of Neurology, Children's National Medical Center, Washington, DC.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Bloom</LastName>
<ForeName>Miriam</ForeName>
<Initials>M</Initials>
<AffiliationInfo><Affiliation>Department of Neurology, Children's National Medical Center, Washington, DC.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Vogt</LastName>
<ForeName>Julie</ForeName>
<Initials>J</Initials>
<AffiliationInfo><Affiliation>West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham, UK.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Pysden</LastName>
<ForeName>Karen</ForeName>
<Initials>K</Initials>
<AffiliationInfo><Affiliation>Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, Leeds, UK.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Diodato</LastName>
<ForeName>Daria</ForeName>
<Initials>D</Initials>
<AffiliationInfo><Affiliation>Muscular and Neurodegenerative Disorders Unit, Ospedale Pediatrico Bambino Gesu, Rome, Italy.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Martinelli</LastName>
<ForeName>Diego</ForeName>
<Initials>D</Initials>
<AffiliationInfo><Affiliation>Division of Metabolism, Bambino Gesu' Children's Hospital, IRCCS, Rome, Italy.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Monavari</LastName>
<ForeName>Ahmad</ForeName>
<Initials>A</Initials>
<AffiliationInfo><Affiliation>Temple Street Children's University Hospital, Dublin, Ireland.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Buhas</LastName>
<ForeName>Daniela</ForeName>
<Initials>D</Initials>
<AffiliationInfo><Affiliation>Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Center, Montreal, Quebec, Canada; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>van Karnebeek</LastName>
<ForeName>Clara D M</ForeName>
<Initials>CD</Initials>
<AffiliationInfo><Affiliation>Department of Pediatrics, Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, University of British Columbia, Vancouver, Canada.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Dorboz</LastName>
<ForeName>Imen</ForeName>
<Initials>I</Initials>
<AffiliationInfo><Affiliation>INSERM UMR 1141, DHU PROTECT, Paris Diderot University, Sorbonne Paris Cité, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Boespflug-Tanguy</LastName>
<ForeName>Odile</ForeName>
<Initials>O</Initials>
<AffiliationInfo><Affiliation>INSERM UMR 1141, DHU PROTECT, Paris Diderot University, Sorbonne Paris Cité, France; AP-HP, Department of Neuropediatrics and Metabolic Diseases, National Reference Center for Leukodystrophies, Robert Debré Hospital, Paris, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Rodriguez</LastName>
<ForeName>Diana</ForeName>
<Initials>D</Initials>
<AffiliationInfo><Affiliation>INSERM UMR 1141, DHU PROTECT, Paris Diderot University, Sorbonne Paris Cité, France; APHP, Department of Neuropediatrics, National Reference Center for Neurogenetic Disorders, Hôpital Armand-Trousseau, GHUEP, Paris, France; GRC ConCer-LD, Sorbonne Universités, UPMC Université Paris 06, Paris, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Tétreault</LastName>
<ForeName>Martine</ForeName>
<Initials>M</Initials>
<AffiliationInfo><Affiliation>Department of Human Genetics, McGill University, Montreal, Quebec, Canada; McGill University and Genome Quebec Innovation Center, Montreal, Quebec, Canada.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Majewski</LastName>
<ForeName>Jacek</ForeName>
<Initials>J</Initials>
<AffiliationInfo><Affiliation>Department of Human Genetics, McGill University, Montreal, Quebec, Canada; McGill University and Genome Quebec Innovation Center, Montreal, Quebec, Canada.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Bernard</LastName>
<ForeName>Genevieve</ForeName>
<Initials>G</Initials>
<AffiliationInfo><Affiliation>Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Center, Montreal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada; Department of Pediatrics McGill University, Montreal, Quebec, Canada; Child Health and Human Development Program, Research Institute of the McGill University Health Center, Montreal, Quebec, Canada.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Ng</LastName>
<ForeName>Yi Shiau</ForeName>
<Initials>YS</Initials>
<AffiliationInfo><Affiliation>Wellcome Trust Centre for Mitochondrial Research, Newcastle University, UK.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><CollectiveName>Care4Rare Canada Consortium</CollectiveName>
</Author>
<Author ValidYN="Y"><LastName>McFarland</LastName>
<ForeName>Robert</ForeName>
<Initials>R</Initials>
<AffiliationInfo><Affiliation>Wellcome Trust Centre for Mitochondrial Research, Newcastle University, UK.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Vanderver</LastName>
<ForeName>Adeline</ForeName>
<Initials>A</Initials>
<AffiliationInfo><Affiliation>Department of Neurology, Children's National Medical Center, Washington, DC; Department of Integrated Systems Biology, George Washington University, Washington, DC; Department of Pediatrics, George Washington University, Washington, DC. Electronic address: avanderv@childrensnational.org.</Affiliation>
</AffiliationInfo>
</Author>
</AuthorList>
<Language>eng</Language>
<PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType>
</PublicationTypeList>
<ArticleDate DateType="Electronic"><Year>2016</Year>
<Month>09</Month>
<Day>13</Day>
</ArticleDate>
</Article>
<MedlineJournalInfo><Country>United States</Country>
<MedlineTA>Pediatr Neurol</MedlineTA>
<NlmUniqueID>8508183</NlmUniqueID>
<ISSNLinking>0887-8994</ISSNLinking>
</MedlineJournalInfo>
<KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">MRI pattern recognition</Keyword>
<Keyword MajorTopicYN="N">RMND1</Keyword>
<Keyword MajorTopicYN="N">cytomegalovirus</Keyword>
<Keyword MajorTopicYN="N">genetics</Keyword>
<Keyword MajorTopicYN="N">leukoencephalopathy</Keyword>
</KeywordList>
</MedlineCitation>
<PubmedData><History><PubMedPubDate PubStatus="received"><Year>2016</Year>
<Month>08</Month>
<Day>04</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="revised"><Year>2016</Year>
<Month>09</Month>
<Day>03</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="accepted"><Year>2016</Year>
<Month>09</Month>
<Day>06</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="pubmed"><Year>2016</Year>
<Month>11</Month>
<Day>16</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="medline"><Year>2016</Year>
<Month>11</Month>
<Day>16</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="entrez"><Year>2016</Year>
<Month>11</Month>
<Day>16</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
</History>
<PublicationStatus>ppublish</PublicationStatus>
<ArticleIdList><ArticleId IdType="pubmed">27843092</ArticleId>
<ArticleId IdType="pii">S0887-8994(16)30580-X</ArticleId>
<ArticleId IdType="doi">10.1016/j.pediatrneurol.2016.09.003</ArticleId>
</ArticleIdList>
</PubmedData>
</pubmed>
<affiliations><list><country><li>Australie</li>
<li>Canada</li>
<li>France</li>
<li>Irlande (pays)</li>
<li>Italie</li>
<li>Royaume-Uni</li>
<li>États-Unis</li>
</country>
<region><li>Angleterre</li>
<li>District de Columbia</li>
<li>Latium</li>
<li>Midlands de l'Ouest</li>
<li>Pennsylvanie</li>
<li>Québec</li>
<li>Île-de-France</li>
</region>
<settlement><li>Birmingham</li>
<li>Montréal</li>
<li>Paris</li>
<li>Rome</li>
</settlement>
<orgName><li>Université McGill</li>
</orgName>
</list>
<tree><country name="États-Unis"><region name="District de Columbia"><name sortKey="Ulrick, Nicole" sort="Ulrick, Nicole" uniqKey="Ulrick N" first="Nicole" last="Ulrick">Nicole Ulrick</name>
</region>
<name sortKey="Bloom, Miriam" sort="Bloom, Miriam" uniqKey="Bloom M" first="Miriam" last="Bloom">Miriam Bloom</name>
<name sortKey="Goldstein, Amy" sort="Goldstein, Amy" uniqKey="Goldstein A" first="Amy" last="Goldstein">Amy Goldstein</name>
<name sortKey="Helman, Guy" sort="Helman, Guy" uniqKey="Helman G" first="Guy" last="Helman">Guy Helman</name>
<name sortKey="Pizzino, Amy" sort="Pizzino, Amy" uniqKey="Pizzino A" first="Amy" last="Pizzino">Amy Pizzino</name>
<name sortKey="Taft, Ryan J" sort="Taft, Ryan J" uniqKey="Taft R" first="Ryan J" last="Taft">Ryan J. Taft</name>
<name sortKey="Vanderver, Adeline" sort="Vanderver, Adeline" uniqKey="Vanderver A" first="Adeline" last="Vanderver">Adeline Vanderver</name>
</country>
<country name="Australie"><noRegion><name sortKey="Simons, Cas" sort="Simons, Cas" uniqKey="Simons C" first="Cas" last="Simons">Cas Simons</name>
</noRegion>
</country>
<country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Vogt, Julie" sort="Vogt, Julie" uniqKey="Vogt J" first="Julie" last="Vogt">Julie Vogt</name>
</region>
<name sortKey="Mcfarland, Robert" sort="Mcfarland, Robert" uniqKey="Mcfarland R" first="Robert" last="Mcfarland">Robert Mcfarland</name>
<name sortKey="Ng, Yi Shiau" sort="Ng, Yi Shiau" uniqKey="Ng Y" first="Yi Shiau" last="Ng">Yi Shiau Ng</name>
<name sortKey="Pysden, Karen" sort="Pysden, Karen" uniqKey="Pysden K" first="Karen" last="Pysden">Karen Pysden</name>
</country>
<country name="Italie"><region name="Latium"><name sortKey="Diodato, Daria" sort="Diodato, Daria" uniqKey="Diodato D" first="Daria" last="Diodato">Daria Diodato</name>
</region>
<name sortKey="Martinelli, Diego" sort="Martinelli, Diego" uniqKey="Martinelli D" first="Diego" last="Martinelli">Diego Martinelli</name>
</country>
<country name="Irlande (pays)"><noRegion><name sortKey="Monavari, Ahmad" sort="Monavari, Ahmad" uniqKey="Monavari A" first="Ahmad" last="Monavari">Ahmad Monavari</name>
</noRegion>
</country>
<country name="Canada"><noRegion><name sortKey="Buhas, Daniela" sort="Buhas, Daniela" uniqKey="Buhas D" first="Daniela" last="Buhas">Daniela Buhas</name>
</noRegion>
<name sortKey="Bernard, Genevieve" sort="Bernard, Genevieve" uniqKey="Bernard G" first="Genevieve" last="Bernard">Genevieve Bernard</name>
<name sortKey="Majewski, Jacek" sort="Majewski, Jacek" uniqKey="Majewski J" first="Jacek" last="Majewski">Jacek Majewski</name>
<name sortKey="Tetreault, Martine" sort="Tetreault, Martine" uniqKey="Tetreault M" first="Martine" last="Tétreault">Martine Tétreault</name>
<name sortKey="Van Karnebeek, Clara D M" sort="Van Karnebeek, Clara D M" uniqKey="Van Karnebeek C" first="Clara D M" last="Van Karnebeek">Clara D M. Van Karnebeek</name>
</country>
<country name="France"><noRegion><name sortKey="Dorboz, Imen" sort="Dorboz, Imen" uniqKey="Dorboz I" first="Imen" last="Dorboz">Imen Dorboz</name>
</noRegion>
<name sortKey="Boespflug Tanguy, Odile" sort="Boespflug Tanguy, Odile" uniqKey="Boespflug Tanguy O" first="Odile" last="Boespflug-Tanguy">Odile Boespflug-Tanguy</name>
<name sortKey="Rodriguez, Diana" sort="Rodriguez, Diana" uniqKey="Rodriguez D" first="Diana" last="Rodriguez">Diana Rodriguez</name>
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