Work

A familial case of diffuse periventricular nodular heterotopia identified prenatally: Filamin A defect as the probable cause

Year: 2024

Type: article

Abstract: gene. We present a case of X-linked hereditary PNH that highlights the value of fetal neurosonography in making a putative diagnosis. The diagnosis was supported by MRI in both fetus and mother. The investigation was supplemented by genetic studies, which confirmed the diagnosis.

Source: Radiology Case Reports

DOI: 10.1016/j.radcr.2024.07.190

Authors: Mariana Tomásio Neves, André Luís Borges, Guilherme Martins, Graça Sá, Teresa Loureiro, Oana Moldovan

Institutions: Hospital de Santa Maria, Unidade Local de Saúde Santa Maria, Hospital of St. Francis Xavier

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: gold

Estimated APC paid: $550