title: Prenatal Diagnosis of Lissencephaly Type 2 using Three-dimensional Ultrasound and Fetal MRI: Case Report and Review of the Literature.
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.
authors.affiliation: Department of Obstetrics & Gynecology, Ospedale Civile Guastalla, AUSL Reggio Emilia, Reggio Emilia, Italy.
authors.forename: Gabriele
authors.initials: G
authors.lastname: Tonni
authors.affiliation: Department of Diagnostic Imaging, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) "Arcispedale Santa Maria Nuova", Reggio Emilia, Italy.
authors.forename: Pierpaolo
authors.initials: P
authors.lastname: Pattacini
authors.affiliation: Department of Pathology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) "Arcispedale Santa Maria Nuova", Reggio Emilia, Italy.
authors.forename: Maria Paola
authors.initials: MP
authors.lastname: Bonasoni
authors.affiliation: Department of Obstetrics, Escola Paulista de Medicina, Universidade Federal de São Paulo (EPM-Unifesp), São Paulo-SP, Brazil.
authors.forename: Edward
authors.initials: E
authors.lastname: Araujo Júnior
mesh_terms: D000328:Adult; D054222:Cobblestone Lissencephaly / Q000000981:diagnostic imaging*; D005260:Female; D006801:Humans; D021621:Imaging, Three-Dimensional; D008279:Magnetic Resonance Imaging; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods; D016216:Ultrasonography, Prenatal