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Literature DB >> 9450779

Cytomegalovirus infection and schizencephaly: case reports.

P Iannetti¹, G Nigro, A Spalice, A Faiella, E Boncinelli.

Abstract

Two children with left open-lip schizencephaly are reported. Cytomegalovirus (CMV) infection was demonstrated on the second day of life in Patient 1; in the other patient CMV infection was observed at the age of 4 years. Magnetic resonance imaging revealed polymicrogyric cortex lining the clefts. In Patient 2 polymicrogyria was also present in the corresponding area contralateral to the schizencephaly. Computed tomography revealed the presence of subependymal periventricular calcifications. Genetic analysis did not demonstrate the presence of EMX2 homeobox gene. The possible role of CMV infection in the complex multifactorial pathogenesis of schizencephaly is therefore suggested.

Entities: Disease Gene Species

Mesh：

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Year: 1998 PMID： 9450779 DOI： 10.1002/ana.410430122

Source DB: PubMed Journal: Ann Neurol ISSN： 0364-5134 Impact factor: 10.422

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Cited

12 in total

1. Schizencephaly with occlusion or absence of middle cerebral artery.

Authors: A Fernández-Bouzas; T Harmony; E Santiago-Rodríguez; J Ricardo-Garcell; T Fernández; D Avila-Acosta
Journal: Neuroradiology Date: 2006-01-04 Impact factor: 2.804

2. Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.

Authors: William B Dobyns; Ghayda Mirzaa; Susan L Christian; Kristin Petras; Jessica Roseberry; Gary D Clark; Cynthia J R Curry; Donna McDonald-McGinn; Livija Medne; Elaine Zackai; Julie Parsons; Dina J Zand; Fuki M Hisama; Christopher A Walsh; Richard J Leventer; Christa L Martin; Marzena Gajecka; Lisa G Shaffer
Journal: Am J Med Genet A Date: 2008-07-01 Impact factor: 2.802

3. Dizygotic twins with schizencephaly and focal cortical dysplasia.

Authors: U Senol; K Karaali; B Aktekin; S Yilmaz; T Sindel
Journal: AJNR Am J Neuroradiol Date: 2000-09 Impact factor: 3.825

4. Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly.

Authors: Ute Hehr; Daniel E Pineda-Alvarez; Goekhan Uyanik; Ping Hu; Nan Zhou; Andreas Hehr; Chayim Schell-Apacik; Carola Altus; Cornelia Daumer-Haas; Annechristin Meiner; Peter Steuernagel; Erich Roessler; Juergen Winkler; Maximilian Muenke
Journal: Hum Genet Date: 2010-02-16 Impact factor: 4.132

Cytomegalovirus infection and schizencephaly: case reports.

1. Schizencephaly with occlusion or absence of middle cerebral artery.

2. Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.

3. Dizygotic twins with schizencephaly and focal cortical dysplasia.

4. Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly.

5. Bilateral giant open lip schizencephaly with associated cerebral anomalies: a case report.

6. Cortical maldevelopment in congenital cytomegalovirus infection transmitted by a woman with preexisting immunity.

7. Schizencephaly: association with young maternal age, alcohol use, and lack of prenatal care.

Review 8. A developmental and genetic classification for malformations of cortical development: update 2012.

Review 9. Malformations of cortical development and epilepsy.

10. Unilateral right closed-lip schizencephaly.