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Diffuse interstitial lung disease in a male fetus with periventricular nodular heterotopia and filamin A mosaic variant.
- Source :
-
Prenatal diagnosis [Prenat Diagn] 2024 Mar; Vol. 44 (3), pp. 364-368. Date of Electronic Publication: 2023 Dec 26. - Publication Year :
- 2024
-
Abstract
- Background: Most periventricular nodular heterotopias (PNHs) are associated with a mutation in the filamin A (FLNA) gene in Xq28. This condition is associated with cardiovascular malformations, connective tissue abnormalities, epilepsy, and intellectual deficiency of varying severity.<br />Materials and Methods: We report a new FLNA gene mutation in a male patient associated with PNH and diffuse interstitial lung disease.<br />Results: A 23-year-old woman was referred at 31 gestational weeks to evaluate a suspected mega cisterna magna and ventricular septal defect with atrioventricular valve alignment in a male fetus. The fetal magnetic resonance imaging showed PNH associated with corpus callosum dysgenesis and a mega cisterna magna. At 2 months of age, the infant was diagnosed with severe respiratory distress with hypoxemia. A chest CT scan demonstrated a diffuse interstitial lung pattern with emphysema, multiple atelectasis foci, and signs of pulmonary hypertension. Rapid worsening led to his death at 4 months. Targeted sequencing of the FLNA gene identified a de novo hemizygous variant in 75% mosaic in lymphocyte cells, resulting in incomplete FLNA function loss.<br />Discussion & Conclusion: On the diagnosis of antenatal PNH, the possibility of such lung involvement should be considered in the prognostic evaluation during prenatal counseling.<br /> (© 2023 John Wiley & Sons Ltd.)
Details
- Language :
- English
- ISSN :
- 1097-0223
- Volume :
- 44
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Prenatal diagnosis
- Publication Type :
- Report
- Accession number :
- 38148030
- Full Text :
- https://doi.org/10.1002/pd.6505