The tricky thrombus: A rare inborn error of metabolism with venous thrombosis Anand Varun1, Kondekar Alpana Santosh2,*, Ghildiyal Radha G3, Zanak Komal4, Ahmed Taz4 1Assistant Professor, Dept. of Pediatrics, TN Medical College and BYL Nair Hospital, Mumbai Central, Mumbai, India 2Associate Professor, Dept. of Pediatrics, TN Medical College and BYL Nair Hospital, Mumbai Central, Mumbai, India 3Professor, Dept. of Pediatrics, TN Medical College and BYL Nair Hospital, Mumbai Central, Mumbai, India 4PG Student, Dept. of Pediatrics, TN Medical College and BYL Nair Hospital, Mumbai Central, Mumbai, India *Corresponding Author: Email: drkondekar@gmail.com
Online published on 23 February, 2018. Abstract Hyperhomocysteinemia is an inborn error of amino acid metabolism (IEM) in which homocysteine accumulates in the blood and produces a slowly evolving clinical syndrome.(1) Late presentation is rarely seen in paediatric age group.(2) 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. Top Keywords Homocystinurea, Homocysteinemia, Hyperhomocysteinemia. Top |