A Case of Recurrent Schizencephaly with Prenatal and Postnatal Ultrasound and Magnetic Resonance Imaging Details

Abstract

Schizencephaly is a rare congenital disorder of cerebral cortical development classified under cell migration defects. Here we report a case of recurrent schizencephaly diagnosed prenatally and confirmed postnatally in two consecutive pregnancies of a nonconsanguineous couple. Prenatal ultrasound is a valuable tool for the early detection, evaluation, and management of schizencephaly. Magnetic resonance imaging complements the diagnosis of schizencephaly by confirming the diagnosis and providing information on additional abnormalities such as polymicrogyria, heterotopias, and closed lip schizencephaly. Whole exome sequencing revealed a heterozygous missense variant in exon 1 of the PEX13 gene, associated with peroxisome biogenesis disorder type 11A (Zellweger syndrome). Our case highlights the potential genetic etiology of schizencephaly.

Keywords

schizencephaly - prenatal diagnosis - PEX13 gene - zellweger syndrome - nonconsanguineous marriage

Ethical Approval

This study was approved by the Institutional Review Board of ARMC AEGIS hospital. The research conforms to the principles outlined in the Declaration of Helsinki.

Authors' Contributions

S.E.: data analysis, manuscript writing, literature review on schizencephaly, prepared the figures legends for the imaging aspect of manuscript.

S.K.V.: conceptualization of the case report, performed and interpreted the advanced neurosonography, provided expert guidance on prenatal counseling and prognosis for the parents, conducted the genetic study to assess chromosomal and genetic abnormalities, manuscript review.

S.K.P.: interpreted the MRI images, contributed to the imaging and neuroanatomical analysis, manuscript review, assisted in the preparation of imaging figures and legends.

P.D.C.: drafted the background and discussion sections of the manuscript.

P.R.U.: data collection, edited the manuscript for language clarity and clinical accuracy.

R.C.: data collection, edited the clinical details and management aspects in the manuscript.

S.M.: data collection, edited the manuscript for language clarity and clinical accuracy.

Publikationsverlauf

Artikel online veröffentlicht:
05. August 2025

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