Work

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

Year: 2016

Type: article

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.

Source: Revista Brasileira Ginecologia e Obstetrícia

DOI: 10.1055/s-0036-1582126

Authors: Gabriele Tonni, Pierpaolo Pattacini, Maria Bonasoni, Edward Araujo Júnior

Institutions: Azienda Sanitaria Unità Locale di Reggio Emilia, Santa Maria Nuova Hospital, Istituti di Ricovero e Cura a Carattere Scientifico, Universidade Federal de São Paulo

Language: English

Topic: Fetal and Pediatric Neurological Disorders

Subfield: Pediatrics, Perinatology and Child Health

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W2336218481