Deep Venous Thrombosis of the Leg, Associated with Agenesis of the Infrarenal Inferior Vena Cava and Hypoplastic Left Kidney (KILT Syndrome) in a 14-Year-Old Child

Abstract

Agenesis of the inferior vena cava (IVC) is a rare anomaly which can be identified as incidental finding or can be associated with iliofemoral vein thrombosis. IVC agenesis has a known association with renal anomalies which are mainly confined to the right kidney. We describe a case of a 14-year-old male who presented with left leg swelling and pain. Ultrasonography confirmed the presence of left leg deep vein thrombosis (DVT). No underlying hematologic risk factors were identified. A CT scan was obtained which demonstrated absent infrarenal IVC and extensive thrombosis in the left deep venous system and development of collateral venous flow into the azygous/hemiazygous system, with extension of thrombus into paraspinal collaterals. An additional finding in the patient was an atrophic left kidney and stenosis of an accessory left renal artery. Agenesis of the IVC should be considered in a young patient presenting with lower extremity DVT, especially in patients with no risk factors for thrombosis. As agenesis of the IVC cannot be corrected, one should be aware that there is a lifelong risk of lower extremity DVT.

Deep Venous Thrombosis Associated With Inferior Vena Cava Abnormalities And Hypoplastic Kidney In Siblings

“…The association of IVC agenesia with other congenital anomalies, like kidney hypoplasia have already been described [2].…”

“…The most common anomalies of IVC are duplication of IVC, left sided IVC, IVC continued with intrathoracic azygos vein, IVC agenesis, retro aortic left renal vein [6].There are controversies in the literature about the etiology of IVC abnormalities. Some authors suggest that thrombosis on the IVC during intrauterine or the perinatal period with obliteration and subsequent resorbtion is the origin of its disappearance, hence no embryologic abnormalities are seen [2,[6][7][8].…”

“…It represents a well-known cause of ileo-femoral deep vein thrombosis (DVT) [2,3]. The incidence of IVC abnormalities in general population is 0.2 -1%; this incidence being higher in young adults with DVT, namely 5% [2,4]. A precise diagnosis needs an angio-computed tomography (angio-CT) or angio-MRI (Magnetic resonance imaging) evaluation [4,5].…”

Inferior vena cava atresia predisposing to acute lower extremity deep vein thrombosis in children: A descriptive dual‐center study

“…[5][6][7] Abnormalities of the inferior vena cava (IVC), either due to atresia or chronic thrombosis, have been described as a risk factor for iliofemoral deep vein thrombosis (DVT) in adults, [8][9][10][11] and there are rare case reports in pediatrics. [12][13][14] Congenital interruptions and malformations of the IVC are rare, with IVC atresia having an estimated prevalence of 0.3-1% in the general population [15][16][17][18] ; however, the precise prevalence of this anatomic abnormality remains unclear.…”

Inferior Vena Cava Agenesis: An Unusual Cause of Deep Vein Thrombosis and Pulmonary Embolism in Young Adult Patients

“…Patients that present with agenesis of the infrarenal segment need drainage through the azygous, hemiazygous, lumbar, para-vertebral, and abdominal wall veins, as seen in both of the presented cases. 4 , 5 The common iliac veins can drain directly into the lumbar venous system. 4 Inherently, IVCA leads to venous stasis and endothelial damage; hence, any risk factor that causes hypercoagulability can lead to DVT.…”