title: Polymicrogyria, Large Corpus Callosum and Psychomotor Retardation in Four-Year-Old Girl: Potential Association Based on MR Findings. A Case Report and Literature Review.
abstract: SUMMARY - We describe a child from consanguineous parents presenting mega corpus callosum (MegaCC), polymicrogyria, psychomotor retardation with swallowing difficulties and language impairment perhaps linked to the syndrome of megalencephaly-polymicrogyria-mega corpus callosum (MEG-PMG-MegaCC). Reviewing the literature, we speculate that MegaCC, psychomotor retardation and anomalies in cortical migration are the three pathognomonic features. The presence of additional possibly associated anomalies such as megalencephaly, indicates that the spectrum of linked malformations with this rare syndrome is broad and yet to be defined.
authors.affiliation: Neuroradiology Department, IRCCS Institute of Neurological Sciences, Bologna University; Bologna, Italy - marco.leonardi@centauro.it.
authors.forename: Caterina
authors.initials: C
authors.lastname: Budai
authors.affiliation: Neuroradiology Department, IRCCS Institute of Neurological Sciences, Bologna University; Bologna, Italy.
authors.forename: Giulia
authors.initials: G
authors.lastname: Moscato
authors.affiliation: Neuroradiology Department, IRCCS Institute of Neurological Sciences, Bologna University; Bologna, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Patruno
authors.affiliation: Neuroradiology Department, IRCCS Institute of Neurological Sciences, Bologna University; Bologna, Italy - marco.leonardi@centauro.it.
authors.forename: Marco
authors.initials: M
authors.lastname: Leonardi
authors.affiliation: Neuroradiology Department, IRCCS Neurological Research Hospital Bologna; Bologna, Italy.
authors.forename: Monica
authors.initials: M
authors.lastname: Maffei
mesh_terms: D001921:Brain / Q000000981:diagnostic imaging; D002675:Child, Preschool; D003337:Corpus Callosum / Q000000981:diagnostic imaging*; D003680:Deglutition Disorders / Q000000981:diagnostic imaging*; D005260:Female; D006801:Humans; D007806:Language Disorders / Q000000981:diagnostic imaging*; D008279:Magnetic Resonance Imaging; D058627:Megalencephaly / Q000000981:diagnostic imaging*; D065706:Polymicrogyria / Q000000981:diagnostic imaging*; D013577:Syndrome
keywords: mega corpus callosum; polymicrogyria; psychomotor retardation