title: Expanding the spectrum of human ganglionic eminence region anomalies on fetal magnetic resonance imaging.
abstract: BACKGROUND
  Ganglionic eminence (GE) is a transient fetal brain structure that harvests a significant amount of precursors of cortical GABA-ergic interneurons. Prenatal magnetic resonance (MR) imaging features of GE anomalies (i.e., cavitations) have already been reported associated with severe micro-lissencephaly. The purpose of this report was to illustrate the MR imaging features of GE anomalies in conditions other than severe micro-lissencephalies.
  
  
  METHODS
  Among all the fetuses submitted to prenatal MR imaging at our center from 2005 to 2014, we collected eight cases with GE anomalies and only limited associated brain anomalies. The median gestational age at the time of MR imaging was 21 weeks ranging from 19 to 29 weeks. Two senior pediatric neuroradiologists categorized the anomalies of the GE region in two groups: group one showing cavitation in the GE region and group two showing enlarged GE region. For each fetal case, associated cranial anomalies were also reported.
  
  
  RESULTS
  Five out of the eight cases were included in group one and three in group two. Besides the GE region abnormality, all eight cases had additional intracranial anomalies, such as mild partial callosal agenesis, vermian hypoplasia and rotation, cerebellar hypoplasia, ventriculomegaly, enlarged subarachnoid spaces, molar tooth malformation. Ultrasound generally detected most of the associated intracranial anomalies, prompting the MR investigation; on the contrary in none of the cases, GE anomalies had been detected by ultrasound.
  
  
  CONCLUSIONS
  Our observation expands the spectrum of human GE anomalies, demonstrating that these may take place also without associated severe micro-lissencephalies.
authors.affiliation: Department of Radiology and Neuroradiology, Children's Hospital "V. Buzzi", Via Lodovico Castelvetro 32, 20154, Milan, Italy. andrea.righini@icp.mi.it.
authors.forename: Andrea
authors.initials: A
authors.lastname: Righini
authors.affiliation: Department of Radiology and Neuroradiology, Children's Hospital "V. Buzzi", Via Lodovico Castelvetro 32, 20154, Milan, Italy.|Medical Genetics Unit, Fondazione I.R.C.C.S. Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.
authors.forename: Claudia
authors.initials: C
authors.lastname: Cesaretti
authors.affiliation: Department of Radiology and Neuroradiology, Children's Hospital "V. Buzzi", Via Lodovico Castelvetro 32, 20154, Milan, Italy.|Department of Health Sciences, University of Milan, Milan, Italy.
authors.forename: Giorgio
authors.initials: G
authors.lastname: Conte
authors.affiliation: Department of Radiology and Neuroradiology, Children's Hospital "V. Buzzi", Via Lodovico Castelvetro 32, 20154, Milan, Italy.
authors.forename: Cecilia
authors.initials: C
authors.lastname: Parazzini
authors.affiliation: Clinical Epileptology and Experimental Neurophysiology Unit, Fondazione I.R.C.C.S. Istituto Neurologico "C. Besta", Milan, Italy.
authors.forename: Carolina
authors.initials: C
authors.lastname: Frassoni
authors.affiliation: Division of Human Pathology, San Paolo Hospital, Milan, Italy.
authors.forename: Gaetano
authors.initials: G
authors.lastname: Bulfamante
authors.affiliation: Division of Human Pathology, San Paolo Hospital, Milan, Italy.
authors.forename: Laura
authors.initials: L
authors.lastname: Avagliano
authors.affiliation: Clinical Epileptology and Experimental Neurophysiology Unit, Fondazione I.R.C.C.S. Istituto Neurologico "C. Besta", Milan, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Inverardi
authors.affiliation: Department of Radiology and Neuroradiology, Children's Hospital "V. Buzzi", Via Lodovico Castelvetro 32, 20154, Milan, Italy.
authors.forename: Giana
authors.initials: G
authors.lastname: Izzo
authors.affiliation: Department of Obstetrics and Gynaecology, Prenatal Diagnosis, Children's Hospital "V. Buzzi", Milan, Italy.
authors.forename: Mariangela
authors.initials: M
authors.lastname: Rustico
mesh_terms: D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007089:Image Enhancement / Q000379:methods; D054082:Lissencephaly / Q000000981:diagnostic imaging / Q000473:pathology*; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D008473:Median Eminence / Q000002:abnormalities* / Q000000981:diagnostic imaging* / Q000473:pathology; D011296:Prenatal Diagnosis / Q000379:methods*; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity
keywords: Brain; Ganglionic eminence; Magnetic resonance imaging; Prenatal diagnosis; Rare diseases