As a part of diagnostic workup in a girl with hypertensive crisis and leg pain and swelling, imaging studies revealed deep venous thrombosis of the lower extremities and anomalies of the inferior vena cava (IVC) and hypoplastic left kidney. KILT syndrome is generally characterized as a coexistence of kidney and inferior vena cava anomalies with leg thrombosis.
We report for the first time a patient diagnosed with KILT syndrome with an atypical clinical presentation including hypertensive crisis and leg and intracranial sinuses thrombosis leading to leg swelling, visual disturbances, and headache. In all children with deep venous thrombosis, inferior vena cava and kidney abnormalities should be investigated to exclude or diagnose KILT syndrome as this will influence the differential diagnostic process as well as treatment of this rare clinical entity.