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

Lookup NU author(s): Dr Yi Ng, Professor Bobby McFarlandORCiD


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BACKGROUND: Leukoencephalopathy with temporal lobe cysts may be associated with monogenetic conditions such as Aicardi-Goutieres 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. 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 neuroradielogical features. 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. 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.

Publication metadata

Author(s): Ulrick N, Goldstein A, Simons C, Taft RJ, Heiman G, Pizzino A, Bloom M, Vogt J, Pysden K, Diodato D, Martinelli D, Monavari A, Buhas D, van Karnebeek CDM, Dorboz I, Boespflug-Tanguy O, Rodriguez D, Tetreault M, Majewski J, Bernard G, Ng YS, McFarland R, Vanderver A, Care4Rare Canada Consortium

Publication type: Article

Publication status: Published

Journal: Pediatric Neurology

Year: 2017

Volume: 66

Pages: 59-62

Print publication date: 01/01/2017

Online publication date: 13/09/2016

Acceptance date: 06/09/2016

ISSN (print): 0887-8994

ISSN (electronic): 1873-5150

Publisher: Elsevier


DOI: 10.1016/j.pediatrneurol.2016.09.003


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Funder referenceFunder name
Association "La Vita e'un dono" ONLUS
Canadian Institutes of Health Research
Delman Fund for Pediatric Neurology Education
Myelin Disorders Bioregistry Project
National Health and Medical Research Council (NHMRC)
Ontario Genomics Institute
Ontario Research Fund
Ryan Standford Appeal
Canadian Institute of Health Research
Canadian Institutes of Health Research (CIHR)
Children's Hospital of Eastern Ontario Foundation
Fondation Leuco dystrophie
Fonds de Recherche du Quebec en Sante (FRQS)
FP7 Health project RD Connect
Genome Quebec
Lily Foundation
Wellcome Trust
ELA 2009-00714AV2European Leukodystrophy Association (ELA) foundation
OGI-064Genome Canada
UL1TR000075National Institute of Health (NIH) National Center for Advancing Translational Sciences