Archives de pediatrie : organe officiel de la Societe francaise de pediatrie · 2015
[Deep vein thrombosis due to protein C deficiency in a neonate].
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Rahal H, Radouani M A, Knouni H, Barkat A
Аннотация
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.
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.