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Polymicrogyria, Large Corpus Callosum and Psychomotor Retardation in Four-Year-Old Girl: Potential Association Based on MR Findings. A Case Report and Literature Review.
Budai, Caterina; Moscato, Giulia; Patruno, Francesco; Leonardi, Marco; Maffei, Monica.
Affiliation
  • Budai C; Neuroradiology Department, IRCCS Institute of Neurological Sciences, Bologna University; Bologna, Italy - marco.leonardi@centauro.it.
  • Moscato G; Neuroradiology Department, IRCCS Institute of Neurological Sciences, Bologna University; Bologna, Italy.
  • Patruno F; Neuroradiology Department, IRCCS Institute of Neurological Sciences, Bologna University; Bologna, Italy.
  • Leonardi M; Neuroradiology Department, IRCCS Institute of Neurological Sciences, Bologna University; Bologna, Italy - marco.leonardi@centauro.it.
  • Maffei M; Neuroradiology Department, IRCCS Neurological Research Hospital Bologna; Bologna, Italy.
Neuroradiol J ; 27(5): 590-4, 2014 Oct.
Article in En | MEDLINE | ID: mdl-25260206
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.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Deglutition Disorders / Corpus Callosum / Megalencephaly / Polymicrogyria / Language Disorders Type of study: Diagnostic_studies / Risk_factors_studies Limits: Child, preschool / Female / Humans Language: En Journal: Neuroradiol J Year: 2014 Document type: Article Publication country: EEUU / ESTADOS UNIDOS / ESTADOS UNIDOS DA AMERICA / EUA / UNITED STATES / UNITED STATES OF AMERICA / US / USA

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Deglutition Disorders / Corpus Callosum / Megalencephaly / Polymicrogyria / Language Disorders Type of study: Diagnostic_studies / Risk_factors_studies Limits: Child, preschool / Female / Humans Language: En Journal: Neuroradiol J Year: 2014 Document type: Article Publication country: EEUU / ESTADOS UNIDOS / ESTADOS UNIDOS DA AMERICA / EUA / UNITED STATES / UNITED STATES OF AMERICA / US / USA