Frontal bilateral megalencephaly: fetal and autopsy MR evaluation of an unclassified malformation.
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.
Parazzini
Cecilia
C
Department of Radiology e Neuroradiology, Ospedale dei Bambini, Istituti Clinici di Perfezionamento, Milan, Italy. Parazzini@icp.mi.it
Righini
Andrea
A
Lalatta
Faustina
F
Bianchini
Elena
E
Triulzi
Fabio
F
D000328:Adult; D001921:Brain / Q000002:abnormalities*; D002540:Cerebral Cortex / Q000002:abnormalities; D005260:Female; D005865:Gestational Age; D006801:Humans; D008279:Magnetic Resonance Imaging; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D016216:Ultrasonography, Prenatal