Work

Prenatal Diagnosis of FLNA-related Cerebral Periventricular Nodular Heterotopia Presented with Enlarged Cisterna Magna Identified in the Second Trimester: Two Case Reports

Year: 2026

Type: article

Abstract: Periventricular nodular heterotopia (PVNH) is a malformation of cortical development. In this study, we present two cases of PVNH that showed a nonspecific prenatal phenotype. In Case 1, routine anatomical scanning revealed fetal mega cisterna magna (MCM) with a normal vermis at 23 weeks’ gestation. Chromosomal microarray analysis detected a pathogenic deletion of 256 kb at Xq28 encompassing the haploinsufficient FLNA gene. Family studies confirmed the presence of this deletion in the mother, who exhibited cardiac defects and bilateral PVNH but demonstrated normal psychomotor and cognitive development. In Case 2, second-trimester ultrasound examination showed fetal MCM alongside a normal vermis at 22 weeks’ gestation. No additional anomalies were observed on follow-up ultrasounds until term was reached. At 4 months old, the child experienced seizures with PVNH. The genetic evaluation identified a de novo pathogenic splicing variant c.7757-2A>C in FLNA . Our study indicates that while MCM is considered nonspecific, it is crucial to recognize its potential coexistence with PVNH-an association that may manifest later during pregnancy or after birth.

Source: Journal of Medical Ultrasound

DOI: 10.4103/jmu.jmu-d-25-00041

Authors: Gui-Lan Chen, Li Zhen, Dong-Zhi Li

Institutions: Guangzhou Women and Children Medical Center, Guangzhou Medical University

Language: English

Topic: Fetal and Pediatric Neurological Disorders

Subfield: Pediatrics, Perinatology and Child Health

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W7160665643