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09-09-2023 | Case Report

Syndrome of megalencephaly, mega corpus callosum, and complete lack of motor development: an unusual case and a literature review

Authors: Eda Beykoz Cetin, Meltem Necibe Ceyhan Bilgici, Gökcen Oz Tuncer, Irem Sari Karabag, Seren Aydin

Published in: Child's Nervous System | Issue 1/2024

Abstract

The syndrome of megalencephaly, mega corpus callosum (MEG-MegaCC) accompanied by complete lack of motor development is a rare condition with only few sporadic cases having been reported in the literature. In this paper, we describe a child from non-consanguineous parents presenting with MegaCC, psychomotor retardation, and language impairment linked to MEG-MegaCC syndrome. Genetic analysis, radiological findings, and detailed neurological phenotype of MEG-MegaCC syndrome with its overlapping syndromes would allow for a better classification of the disease spectrum.

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Title: Syndrome of megalencephaly, mega corpus callosum, and complete lack of motor development: an unusual case and a literature review
Authors: Eda Beykoz Cetin
Meltem Necibe Ceyhan Bilgici
Gökcen Oz Tuncer
Irem Sari Karabag
Seren Aydin
Publication date: 09-09-2023
Publisher: Springer Berlin Heidelberg
Published in: Child's Nervous System / Issue 1/2024
Print ISSN: 0256-7040
Electronic ISSN: 1433-0350
DOI: https://doi.org/10.1007/s00381-023-06150-5

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Syndrome of megalencephaly, mega corpus callosum, and complete lack of motor development: an unusual case and a literature review

Abstract

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