Prenatal Diagnosis of Lissencephaly Type 2 using Three-dimensional Ultrasound and Fetal MRI: Case Report and Review of the Literature

Prenatal Diagnosis of Lissencephaly Type 2 using Three-dimensional Ultrasound and Fetal MRI: Case Report and Review of the Literature

Author Tonni, Gabriele Google Scholar
Pattacini, Pierpaolo Google Scholar
Bonasoni, Maria Paola Google Scholar
Araujo Junior, Edward Autor UNIFESP Google Scholar
Abstract Lissencephaly is a genetic heterogeneous autosomal recessive disorder characterized by the classical triad: brain malformations, eye anomalies, and congenital muscular dystrophy. Prenatal diagnosis is feasible by demonstrating abnormal development of sulci and gyri. Magnetic resonance imaging (MRI) may enhance detection of developmental cortical disorders as well as ocular anomalies. We describe a case of early diagnosis of lissencephaly type 2 detected at the time of routine second trimester scan by three-dimensional ultrasound and fetal MRI. Gross pathology confirmed the accuracy of the prenatal diagnosis while histology showed the typical feature of cobblestone cortex. As the disease is associated with poor perinatal prognosis, early and accurate prenatal diagnosis is important for genetic counseling and antenatal care.
Keywords lissencephaly
cobblestone cortex
genetic counseling
magnetic resonance
imaging
pathology
prenatal diagnosis
three-dimensional ultrasound
xmlui.dri2xhtml.METS-1.0.item-coverage Rio De Janeiro Rj
Language English
Date 2016
Published in Revista Brasileira De Ginecologia E Obstetricia. Rio De Janeiro Rj, v. 38, n. 4, p. 201-206, 2016.
ISSN 0100-7203 (Sherpa/Romeo, impact factor)
Publisher Federacao Brasileira Soc Ginecologia & Obstetricia-Febrasgo
Extent 201-206
Origin http://dx.doi.org/10.1055/s-0036-1582126
Access rights Open access Open Access
Type Article
Web of Science ID WOS:000410244900008
SciELO ID S0100-72032016000400201 (statistics in SciELO)
URI https://repositorio.unifesp.br/handle/11600/57758

Show full item record




File

Name: S0100-72032016000400201.pdf
Size: 1.999Mb
Format: PDF
Description:
Open file

This item appears in the following Collection(s)

Search


Browse

Statistics

My Account