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IP International Journal of Medical Paediatrics and Oncology


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


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Author Details : Varun Anand, Alpana Santosh Kondekar, Radha G Ghildiyal, Komal Zanak, Taz Ahmed

Volume : 3, Issue : 4, Year : 2017

Article Page : 183-185


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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.

Keywords: Homocystinurea, Homocysteinemia, Hyperhomocysteinemia

How to cite : Anand V, Kondekar A S, Ghildiyal R G, Zanak K, Ahmed T, The tricky thrombus: A rare inborn error of metabolism with venous thrombosis. IP Int J Med Paediatr Oncol 2017;3(4):183-185

Copyright © 2017 by author(s) and IP Int J Med Paediatr Oncol. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (CC BY 4.0) (creativecommons.org)