Polymicrogyria, large corpus callosum and psychomotor retardation in four-year-old girl: Potential association based on mr findings: A case report and literature review

Caterina Budai, Giulia Moscato, Francesco Patruno, Marco Leonardi, Monica Maffei

Research output: Contribution to journalArticle

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Abstract

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.

Original languageEnglish
Pages (from-to)590-594
Number of pages5
JournalNeuroradiology Journal
Volume27
Issue number5
DOIs
Publication statusPublished - Oct 1 2014

Fingerprint

Corpus Callosum
Megalencephaly
Deglutition
Language
Parents
Polymicrogyria
Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome

Keywords

  • Mega corpus callosum
  • Polymicrogyria
  • Psychomotor retardation

ASJC Scopus subject areas

  • Clinical Neurology
  • Radiology Nuclear Medicine and imaging

Cite this

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.

In: Neuroradiology Journal, Vol. 27, No. 5, 01.10.2014, p. 590-594.

Research output: Contribution to journalArticle

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