Schizencephaly accompanied by occipital encephalocele and deletion of chromosome 22q13.32: a case report. (2nd November 2019)

• Record Type: Journal Article
• Authors: Inan, Cihan; Sayin, N. Cenk; Gurkan, Hakan; Atli, Engin; Gursoy Erzincan, Selen; Uzun, Isil; Sutcu, Havva; Dogan, Sumeyra; Ikbal Atli, Emine; Varol, Fusun
• Is Part Of: Fetal and pediatric pathology. Volume 38:Number 6(2019)
• Page Start: 496
• Page End: 502
• Publication Date: 2019-11-02
• Subjects: Schizencephaly -- occipital encephalocele -- mutation -- fetus; Pathology, Molecular -- Periodicals; Pediatrics -- Periodicals; Molecular biology -- Periodicals; Pediatric pathology -- Periodicals; Fetal Diseases -- pathology -- Periodicals; Infant, Newborn, Diseases -- pathology -- Periodicals; Pediatrics -- Periodicals; 618.92007
• DOI: 10.1080/15513815.2019.1604921
• Languages: English
• ISSNs: 1551-3815

Abstract

Abstract: Background: Schizencephaly is a neuronal migration anomaly characterized by presence of a cleft between ependymal layer of the ventricle and pia mater of the cerebral cortex. It may be associated with additional cerebral abnormalities, including polymicrogyria, pachygyria, gray matter heterotopy, ventriculomegaly and corpus callosum agenesis. Case Report: We present a female fetus with schizencephaly accompanied by occipital encephalocele, polymicrogyria, agenesis of the corpus callosum, dysmorphic facies and cardiac muscular ventricular septal defect. Array comparative genomic hybridization (array-cGH) analysis revealed a deletion of chromosome 22q13.32 including FAM19A5 gene that is a member of TAFA family. Conclusions: Schizencephaly may be accompanied by unexpected structural and genetic anomalies as in our case with occipital encephalocele, dysmorphic facies, cardiac ventricular septal defect and chromosome 22q13.32 deletion.