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Article

[Megalencephalic leukoencephalopathy with cysts -the clinical importance in the genetic era].

Revista de neurologia - 16 Nov 2020

Ballesteros-Cogollos V, Morell-García M, Aleu Pérez-Gramunt M, Montesinos-Sanchís E, Mirón-Mombiela R, Martínez-Martínez J C, Tomás-Vila M, Martínez-Castellano F

Abstract excerpt

INTRODUCTION: Megalencephalic leukoencephalopathy with cysts is a leukodystrophy of genetic origin that produces an alteration in the water and ion homeostasis in the brain, generating vacuolar forms and chronic oedema in the white matter with progressive neurological deterioration. It should be suspected in infants who present progressive macrocephaly during the first year of life, motor retardation and...

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Identifiers

PMID: 33145748
DOI: 10.33588/rn.7110.2020520

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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