The tricky thrombus: A rare inborn error of metabolism with venous thrombosis

Hyperhomocysteinemia is an inborn error of amino acid metabolism (IEM) in which homocysteine accumulates in the blood and produces a slowly evolving clinical syndrome. Late presentation is rarely seen in paediatric age group. An eight year old male child presented with diffuse left lower limb swelling (below knee upto medial malleolus) with complete longitudinal and transverse thrombosis of popliteal vein and posterior tibial vein this was later diagnosed with Hyperhomocysteinemia.