Download PDF
CC BY-NC-ND 4.0 · Journal of Fetal Medicine 2023; 10(02): 085-092
DOI: 10.1055/s-0043-57036
Case Report

A Case Report on Prenatal Diagnosis of Evolving Cortical Malformations: A Rare Ultrasound Marker

Aditi Shah
1   Department of Fetal Medicine, Fernandez Foundation, Miyapur, Hyderabad, Telangana, India
,
Navya Bharathi
1   Department of Fetal Medicine, Fernandez Foundation, Miyapur, Hyderabad, Telangana, India
,
Tejaswi Reddy
1   Department of Fetal Medicine, Fernandez Foundation, Miyapur, Hyderabad, Telangana, India
› Author Affiliations
› Further Information
   Permissions and Reprints

Abstract

Malformations of cortical development are rarely diagnosed in utero. Cortical malformations are aberrations in the process of corticogenesis. We report two rare and unique cases of evolving cortical malformation with unusual ultrasonogram markers: (1) narrow cavum septum pellucidum and (2) ill-defined and irregular lateral ventricular borders on the midtrimester anomaly scan. This was further confirmed by fetal brain evaluation on magnetic resonance imaging with additional information on irregular ventricular borders, scattered hyperintensities in the cerebral parenchyma and periventricular area, loss of cerebral layering pattern at 24 weeks gestation in one case, and hemimegalencephaly in another case with a probable diagnosis of evolving cortical malformation. Literature review reveals the above as an unusual presentation on the anomaly scan.

Keywords

malformations of cortical development - narrow CSP - fetal MRI - irregular ventricular margins - hemimegalencephaly


Publication History

Article published online:
16 May 2023

© 2023. Society of Fetal Medicine. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

Thieme Medical and Scientific Publishers Pvt. Ltd.
A-12, 2nd Floor, Sector 2, Noida-201301 UP, India

 

  • References

  • 1 Leibovitz Z, Lerman-Sagie T, Haddad L. Fetal brain development: regulating processes and related malformations. Life (Basel) 2022; 12 (06) 809
    Google Scholar
  • 2 Malinger G, Kidron D, Schreiber L. et al. Prenatal diagnosis of malformations of cortical development by dedicated neurosonography. Ultrasound Obstet Gynecol 2007; 29 (02) 178-191
    CrossrefPubMedGoogle Scholar
  • 3 Jou HJ, Shyu MK, Wu SC, Chen SM, Su CH, Hsieh FJ. Ultrasound measurement of the fetal cavum septi pellucidi. Ultrasound Obstet Gynecol 1998; 12 (06) 419-421
    CrossrefPubMedGoogle Scholar
  • 4 Flores-Sarnat L. Hemimegalencephaly: part 1. Genetic, clinical, and imaging aspects. J Child Neurol 2002; 17 (05) 373-384 , discussion 384
    CrossrefPubMedGoogle Scholar
  • 5 Lerman-Sagie T, Pogledic I, Leibovitz Z, Malinger G. A practical approach to prenatal diagnosis of malformations of cortical development. Eur J Paediatr Neurol 2021; 34: 50-61
    CrossrefPubMedGoogle Scholar