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Published on: September 9, 2012
[Deep vein thrombosis due to protein C deficiency in a neonate]
H Rahal1, M A Radouani1, H Knouni2
1Service de médecine et réanimation néonatales, centre national de néonatologie et nutrition, hôpital d'Enfants, centre hospitalier Ibn-Sina, boulevard Ibn-Rochd, Souissi 10100, Rabat, Maroc.
Insights
Severe congenital protein C deficiency can cause neonatal thrombosis. Early diagnosis in newborns and parents, followed by heparin treatment, is crucial for managing this rare condition.
Area of Science:
- Pediatrics
- Hematology
- Neonatology
Background:
- Venous thromboembolic disease is a significant cause of morbidity and mortality in children.
- Neonatal thrombosis may indicate underlying constitutional hemostatic abnormalities, such as congenital protein C deficiency.
Introduction:
Venous thromboembolic disease is increasingly recognized as an important cause of morbidity and mortality in children. In the neonatal period, thrombotic accidents suggest constitutional abnormalities of homeostasis, including congenital protein C deficiency. We report on a clinical case that helps review all the diagnostic elements and discuss actions to be taken in the neonatal period.
Observation:
A newborn infant was admitted for transient neonatal respiratory distress. The physical examination revealed a facial dysmorphism and a bilateral lumbar contact. Abdominal Doppler ultrasounds showed a thrombosis of the vena cava inferior and of the left renal vein. Investigations searching for a thrombophilic state revealed severe congenital protein C deficiency. The maternal level of protein C at 50% argues in favor of a heterozygote deficit, the rate being normal in the father. Therapeutic management was based on low-molecular-weight heparin. The ultrasound check showed regression and then disappearance of thrombosis. Genetic counseling was planned.
Discussion And Conclusion:
In cases of neonatal thrombosis, seeking a deficiency anticoagulant factor, in particular of protein C, is essential in the newborn and in both parents. Therapeutic management is not codified. An individualized approach is appropriate in this very rare clinical situation.
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