RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.

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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.

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Journal

Journal ID (iso-abbrev): Pediatr. Neurol.

Title: Pediatric neurology

Publisher: Elsevier BV

ISSN (Electronic): 1873-5150

ISSN (Print): 0887-8994

Publication date (Electronic): Jan 2017

Volume: 66

Affiliations

[1 ] Department of Neurology, Children's National Medical Center, Washington, DC.

[2 ] Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania.

[3 ] Institute for Molecular Bioscience, University of Queensland, St. Lucia, Queensland, Australia.

[4 ] 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.

[5 ] West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham, UK.

[6 ] Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, Leeds, UK.

[7 ] Muscular and Neurodegenerative Disorders Unit, Ospedale Pediatrico Bambino Gesu, Rome, Italy.

[8 ] Division of Metabolism, Bambino Gesu' Children's Hospital, IRCCS, Rome, Italy.

[9 ] Temple Street Children's University Hospital, Dublin, Ireland.

[10 ] Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Center, Montreal, Quebec, Canada; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.

[11 ] Department of Pediatrics, Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, University of British Columbia, Vancouver, Canada.

[12 ] INSERM UMR 1141, DHU PROTECT, Paris Diderot University, Sorbonne Paris Cité, France.

[13 ] 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.

[14 ] 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.

[15 ] Department of Human Genetics, McGill University, Montreal, Quebec, Canada; McGill University and Genome Quebec Innovation Center, Montreal, Quebec, Canada.

[16 ] 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.

[17 ] Wellcome Trust Centre for Mitochondrial Research, Newcastle University, UK.

[18 ] 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.

Article

Publisher Item ID: S0887-8994(16)30580-X

DOI: 10.1016/j.pediatrneurol.2016.09.003

PubMed ID: 27843092

SO-VID: c22b2e88-1ccc-4959-8c2e-94996487c3c1

History

Keywords: leukoencephalopathy,MRI pattern recognition,cytomegalovirus,RMND1,genetics

Data availability:

Keywords: leukoencephalopathy, MRI pattern recognition, cytomegalovirus, RMND1, genetics

RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.

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