| Literature DB >> 25260206 |
Caterina Budai1, Giulia Moscato2, Francesco Patruno2, Marco Leonardi1, Monica Maffei3.
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.Entities:
Keywords: mega corpus callosum; polymicrogyria; psychomotor retardation
Mesh:
Year: 2014 PMID: 25260206 PMCID: PMC4237110 DOI: 10.15274/NRJ-2014-10065
Source DB: PubMed Journal: Neuroradiol J ISSN: 1971-4009