International Journal of Medical Paediatrics and Oncology
  • Year: 2017
  • Volume: 3
  • Issue: 4

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

  • Author:
  • Varun Anand1, Alpana Santosh Kondekar2,, Radha G Ghildiyal3, Komal Zanak4, Taz Ahmed4
  • Total Page Count: 3
  • Page Number: 183 to 185

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.

Keywords

Homocystinurea, Homocysteinemia, Hyperhomocysteinemia