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Neuroradiology

, Volume 58, Issue 3, pp 293–300 | Cite as

Expanding the spectrum of human ganglionic eminence region anomalies on fetal magnetic resonance imaging

  • Andrea Righini
  • Claudia Cesaretti
  • Giorgio Conte
  • Cecilia Parazzini
  • Carolina Frassoni
  • Gaetano Bulfamante
  • Laura Avagliano
  • Francesca Inverardi
  • Giana Izzo
  • Mariangela Rustico
Paediatric Neuroradiology
  • 364 Downloads

Abstract

Introduction

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.

Keywords

Brain Ganglionic eminence Magnetic resonance imaging Prenatal diagnosis Rare diseases 

Notes

Compliance with ethical standards

We declare that all human studies have been approved by the Internal Review Board and have therefore been performed in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki and its later amendments. We declare that all patients gave informed consent prior to inclusion in this study.

Conflict of interest

We declare that we have no conflict of interest.

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Copyright information

© Springer-Verlag Berlin Heidelberg 2015

Authors and Affiliations

  • Andrea Righini
    • 1
  • Claudia Cesaretti
    • 1
    • 2
  • Giorgio Conte
    • 1
    • 3
  • Cecilia Parazzini
    • 1
  • Carolina Frassoni
    • 4
  • Gaetano Bulfamante
    • 5
  • Laura Avagliano
    • 5
  • Francesca Inverardi
    • 4
  • Giana Izzo
    • 1
  • Mariangela Rustico
    • 6
  1. 1.Department of Radiology and NeuroradiologyChildren’s Hospital “V. Buzzi”MilanItaly
  2. 2.Medical Genetics Unit, Fondazione I.R.C.C.S. Ca’ GrandaOspedale Maggiore PoliclinicoMilanItaly
  3. 3.Department of Health SciencesUniversity of MilanMilanItaly
  4. 4.Clinical Epileptology and Experimental Neurophysiology UnitFondazione I.R.C.C.S. Istituto Neurologico “C. Besta”MilanItaly
  5. 5.Division of Human PathologySan Paolo HospitalMilanItaly
  6. 6.Department of Obstetrics and Gynaecology, Prenatal DiagnosisChildren’s Hospital “V. Buzzi”MilanItaly

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