Syndrome of megalencephaly, mega corpus callosum, and complete lack of motor development: an unusual case and a literature review
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, psyc...
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Published in | Child's nervous system Vol. 40; no. 1; pp. 219 - 225 |
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Main Authors | , , , , |
Format | Journal Article |
Language | English |
Published |
Berlin/Heidelberg
Springer Berlin Heidelberg
2024
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Subjects | |
Online Access | Get full text |
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Summary: | 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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Bibliography: | ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Review-3 content type line 23 ObjectType-Feature-5 ObjectType-Article-4 ObjectType-Report-1 |
ISSN: | 0256-7040 1433-0350 |
DOI: | 10.1007/s00381-023-06150-5 |