Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome.

doi:10.1016/j.ejpn.2016.03.009

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Article

Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Jul 2016

Tonduti Davide, Orcesi Simona, Jenkinson Emma M, Dorboz Imen, Renaldo Florence, Panteghini Celeste, Rice Gillian I, Henneke Marco, Livingston John H, Elmaleh Monique, Burglen Lydie, Willemsen Michèl A A P, Chiapparini Luisa, Garavaglia Barbara, Rodriguez Diana, Boespflug-Tanguy Odile, Moroni Isabella, Crow Yanick J

Abstract excerpt

BACKGROUND: Cystic leukoencephalopathy without megalencephaly is a disorder related in some cases to RNASET2 mutations and characterized by bilateral anterior temporal subcortical cysts and multifocal lobar white matter lesions with sparing of central white matter structures. This phenotype significantly overlaps with the sequelae of in utero cytomegalovirus (CMV) infection, including the presence of intracranial...

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Identifiers

PMID: 27091087
DOI: 10.1016/j.ejpn.2016.03.009

Genes

RNASET2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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