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Congenital plaque-type glomuvenous malformation associated with chylous ascites
Maria Tejedor1, Ana Martín-Santiago, Cristina Gómez
1Department of Pediatrics, Hospital Universitario Son Dureta, Mallorca, Spain. mtejedormestre@yahoo.es
Abstract:
Congenital plaque-type glomuvenous malformation (GVM) is caused by loss of function mutations in glomulin gene. We report a newborn with this rare vascular disorder associated with chylous ascites. The common mesenchymal origin of GVM and lymphatic vessels as well as the glomulin expression in vascular smooth muscle cells in utero could help explain this unusual prenatal complication of glomuvenous malformations.
Insights
Congenital plaque-type glomuvenous malformation (GVM), a rare vascular disorder, can present with prenatal chylous ascites. This complication may stem from the shared developmental origins of GVM and lymphatic vessels.
Area of Science:
- Vascular Biology
- Genetics
- Developmental Biology
Background:
- Congenital plaque-type glomuvenous malformation (GVM) is a rare vascular anomaly.
- GVM arises from loss-of-function mutations in the glomulin gene.
- Glomulin mutations affect vascular development and integrity.
Observation:
- A rare case of congenital plaque-type GVM in a newborn is presented.
- This GVM was associated with a significant prenatal complication: chylous ascites.
- Chylous ascites involves the accumulation of lymphatic fluid in the abdominal cavity.
Findings:
- The study highlights an unusual prenatal complication of glomuvenous malformations.
- A potential link between GVM and chylous ascites is suggested.
- The common mesenchymal origin of GVM and lymphatic vessels is a key factor.
Implications:
- Understanding the shared developmental pathways can elucidate GVM complications.
- Glomulin expression in fetal vascular smooth muscle cells may play a role.
- This case expands the known clinical spectrum of glomuvenous malformations.
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