Frontal bilateral megalencephaly: Fetal and autopsy MR evaluation of an unclassified malformation

Cecilia Parazzini, Andrea Righini, Faustina Lalatta, Elena Bianchini, Fabio Triulzi

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)489-491
Number of pages3
JournalPrenatal Diagnosis
Volume25
Issue number6
DOIs
Publication statusPublished - Jun 2005

Keywords

  • Cortical malformation
  • Fetal MRI
  • Frontal megalencephaly

ASJC Scopus subject areas

  • Genetics(clinical)
  • Obstetrics and Gynaecology

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