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

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Date
2016Author
Tonni, Gabriele
Pattacini, Pierpaolo
Bonasoni, Maria Paola
Araujo Junior, Edward [UNIFESP]
Type
ArtigoISSN
0100-7203Is part of
Revista Brasileira De Ginecologia E ObstetriciaDOI
10.1055/s-0036-1582126Metadata
Show full item recordAbstract
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.
Citation
Revista Brasileira De Ginecologia E Obstetricia. Rio De Janeiro Rj, v. 38, n. 4, p. 201-206, 2016.Keywords
lissencephalycobblestone cortex
genetic counseling
magnetic resonance
imaging
pathology
prenatal diagnosis
three-dimensional ultrasound
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