Syndrome of megalencephaly, mega corpus callosum, and complete lack of motor development: an unusual case and a literature review.
Childs Nerv Syst
; 40(1): 219-225, 2024 Jan.
Article
em En
| 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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Megalencefalia
/
Malformações do Sistema Nervoso
Limite:
Child
/
Humans
Idioma:
En
Revista:
Childs Nerv Syst
Assunto da revista:
NEUROLOGIA
/
PEDIATRIA
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Turquia