Diffuse interstitial lung disease in a male fetus with periventricular nodular heterotopia and filamin A mosaic variant.
Prenat Diagn
; 44(3): 364-368, 2024 03.
Article
en En
| MEDLINE
| ID: mdl-38148030
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. MATERIALS ANDMETHODS:
We report a new FLNA gene mutation in a male patient associated with PNH and diffuse interstitial lung disease.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. DISCUSSION &CONCLUSION:
On the diagnosis of antenatal PNH, the possibility of such lung involvement should be considered in the prognostic evaluation during prenatal counseling.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Enfermedades Pulmonares Intersticiales
/
Epilepsia
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Heterotopia Nodular Periventricular
Límite:
Adult
/
Female
/
Humans
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Infant
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Male
/
Pregnancy
Idioma:
En
Revista:
Prenat Diagn
Año:
2024
Tipo del documento:
Article
País de afiliación:
Francia
Pais de publicación:
Reino Unido