{Reference Type}: Review
{Title}: Syndrome of megalencephaly, mega corpus callosum, and complete lack of motor development: an unusual case and a literature review.
{Author}: Cetin EB;Bilgici MNC;Tuncer GO;Karabag IS;Aydin S;
{Journal}: Childs Nerv Syst
{Volume}: 40
{Issue}: 1
{Year}: 2024 Jan 9
{Factor}: 1.532
{DOI}: 10.1007/s00381-023-06150-5
{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.