Frontal bilateral megalencephaly: fetal and autopsy MR evaluation of an unclassified malformation
Cecilia Parazzini1, Andrea Righini, Faustina Lalatta
1Department of Radiology e Neuroradiology, Ospedale dei Bambini, Istituti Clinici di Perfezionamento, Milan, Italy. Parazzini@icp.mi.it
Objective:
To describe an unreported brain malformation with in utero onset.
Methods:
A 21-weeks-of-gestational-age fetus underwent prenatal MR imaging because of macrocephaly detected by ultrasound. Prenatal MR imaging revealed a complex brain malformation. At 22 weeks of GA, pregnancy was terminated; an MR autopsy study was also performed.
Results:
MR imaging revealed frontal bilateral megalencephaly and malformation of cortical development, suggesting polymicrogyria. These findings do not fit into any of the known megalencephalic syndromes.
Conclusions:
To our knowledge, this is a previously unreported malformation. Fetal and autoptic MR examination have been the best tools in understanding this complex brain pathology, allowing a more complete genetic counseling.
