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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

Online ISSN : 2581-4702

Print ISSN : 2581-4699

Article First Page : 183

Article End Page : 185


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