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...

Full description

Saved in:
Bibliographic Details
Published inChild's nervous system Vol. 40; no. 1; pp. 219 - 225
Main Authors Cetin, Eda Beykoz, Bilgici, Meltem Necibe Ceyhan, Tuncer, Gökcen Oz, Karabag, Irem Sari, Aydin, Seren
Format Journal Article
LanguageEnglish
Published Berlin/Heidelberg Springer Berlin Heidelberg 2024
Subjects
Case Report
Medicine
Medicine & Public Health
Neurosciences
Neurosurgery
Megalencephaly
Developmental delay
Psychomotor retardation
Mega corpus callosum
Macrocephaly
Online AccessGet full text

Cover

More Information
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.
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