Literature DB >> 18076119

A patient with the syndrome of megalencephaly, mega corpus callosum and complete lack of motor development.

Aditi I Dagli1, Heather J Stalker, Charles A Williams.   

Abstract

The syndrome of megalencephaly, mega corpus callosum and complete lack of motor development (MCC; OMIM 603387) is an apparently rare condition since only three sporadic cases have been reported [Gohlich-Ratmann et al. (1998); Am J Med Genet 79:161-167]. We describe an additional case that was not diagnosed until age 15 months. The MRI showed generalized, severe enlargement of the corpus callosum and thickening of the cortex. The cause for the MCC syndrome is unknown and both autosomal recessive and spontaneous dominant genetic mechanisms are possibilities. (c) 2007 Wiley-Liss, Inc.

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Year:  2008        PMID: 18076119     DOI: 10.1002/ajmg.a.32079

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  4 in total

Review 1.  Polymicrogyria, Large Corpus Callosum and Psychomotor Retardation in Four-Year-Old Girl: Potential Association Based on MR Findings. A Case Report and Literature Review.

Authors:  Caterina Budai; Giulia Moscato; Francesco Patruno; Marco Leonardi; Monica Maffei
Journal:  Neuroradiol J       Date:  2014-09-25

2.  Microstructural changes in thickened corpus callosum in children: contribution of magnetic resonance diffusion tensor imaging.

Authors:  Laura Merlini; Mehrak Anooshiravani; Aikaterini Kanavaki; Sylviane Hanquinet
Journal:  Pediatr Radiol       Date:  2014-12-03

Review 3.  Corpus callosum thickness in children: an MR pattern-recognition approach on the midsagittal image.

Authors:  Savvas Andronikou; Tanyia Pillay; Lungile Gabuza; Nasreen Mahomed; Jaishree Naidoo; Linda Tebogo Hlabangana; Vicci du Plessis; Sanjay P Prabhu
Journal:  Pediatr Radiol       Date:  2014-08-31

4.  Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum.

Authors:  Lina Basel-Vanagaite; Tova Hershkovitz; Eli Heyman; Miquel Raspall-Chaure; Naseebullah Kakar; Pola Smirin-Yosef; Marta Vila-Pueyo; Liora Kornreich; Holger Thiele; Harald Bode; Irina Lagovsky; Dvir Dahary; Ami Haviv; Monika Weisz Hubshman; Metsada Pasmanik-Chor; Peter Nürnberg; Doron Gothelf; Christian Kubisch; Mordechai Shohat; Alfons Macaya; Guntram Borck
Journal:  Am J Hum Genet       Date:  2013-08-08       Impact factor: 11.025

  4 in total

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