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Childs Nerv Syst ; 40(1): 219-225, 2024 Jan.
Article in English | MEDLINE | ID: mdl-37688615

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.


Subject(s)
Megalencephaly , Nervous System Malformations , Child , Humans , Corpus Callosum/diagnostic imaging , Agenesis of Corpus Callosum/complications , Agenesis of Corpus Callosum/diagnostic imaging , Megalencephaly/complications , Megalencephaly/diagnostic imaging , Syndrome
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