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Dysgenesis of the inferior vena cava associated with deep venous thrombosis and a partial Protein C deficiency

Free full text article: Dysgenesis of the inferior vena cava associated with deep venous thrombosis and a partial Protein C deficiency

Abstract
Dysgenesis of the inferior vena cava is rare but it is being increasingly diagnosed by cross-sectional imaging techniques. Patients are usually asymptomatic with abnormalities detected incidentally. An 11 year old boy presented with a 10 day history of fever, vomiting and abdominal pain, which progressed to his back and lower limbs. Magnetic resonance imaging, computerised tomography and Doppler ultrasonography showed the absence of a suprarenal inferior vena cava with bilateral superficial femoral vein thrombi extending cranially to the end of the aberrant inferior vena cava. Haematological testing revealed a partial Protein C deficiency. The presenting clinical picture in this case is unique within the English literature and highlights that deep venous thrombosis associated with inferior vena cava dysgenesis may not present with typical symptoms in children. Early use of advanced imaging modalities would expedite diagnosis and subsequent treatment.






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1. Dysgenesis

2. Inferior vena cava

3. Deep venous thrombosis

4. Protein C


This article belongs to the Pediatric section.


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