Journal of Medical Sciences1682-44741812-5727Asian Network for Scientific Information10.3923/jms.2004.95.101El-KhayatHamed A.AwaadYasser TomoumHoda Y.ElsobkyEzzat ElsayedSolaf 2200442Elevated plasma homocysteine is an independent risk factor for arteriosclerotic heart disease and thrombosis. One of the most common genetic defects in homocysteine metabolism is a mutation in the enzyme methylenetetrahydrofolate reductase (MTHFR) that creates a thermolabile enzyme with reduced activity. We report a case of 12-year old male child who presented with three episodes of strokes over the last three years. Laboratory evaluation showed only mild hyperhomocysteinemia (11.3 μmol L-1). Further testing revealed that he was homozygous for the MTHFR 677 C-to-T mutation. Considering that 10% of the population`s risk for arterial vascular disease may be attributable to elevated homocysteine levels, the high prevalence of the MTHFR mutation may represent an important genetic risk factor. We recommend MTHFR mutation analysis for patients with variable or ambiguous homocysteine levels, since plasma levels are dependent on other factors as sample handling, which is not the case with DNA results.]]>Hart, R.G. and V.T. Miller,198314110114Adams, H.P., M.J. Butler, J. Biller and G.J. Toffol,198643793796Mudd, S.H., F. Skovby, H.L. Levy, K.D. Pettigrew and B. Wilcken et al.,198537131Madonna, P., V. de Stefano, A. Coppola, F. Cirillo, A.M. Cerbone, G. Orefice and G. Di Minno,2002335156Woo, K.S., M. Qiao, P. Chook, P.Y. Poon and A.K. Chan et al.,200217432435Abbate, R., F. Sofi, D. Brogi and R. Marcucci,2003241111Hankey, G.J. and J.W. Eikelboom,1999354407413Eikelboom, J.W., G.J. Hankey, S.S Anand, E. Lofthouse, N. Staples and R.I. Baker,20003110691075Wald, D.S., M. Law and J.K. Morris,200232512021202Yingdong, Z., Z. Zhigang and L. Yang,200217231235Frosst, P., H.J. Blom, R. Milos, P. Goyette and C.A. Sheppard et al.,199510111113Kluijtmans, L.A., L.P. Vandenheuvel, G.H. Boers, P. Frosst and E.M. Stevens et al.,1996583541Li, Z., L. Sun, H. Zhang, Y. Liao and D. Wang et al.,20033420852090Kang, S.S., E.L. Passen, N. Ruggie, P.W. Wong and H. Sora,19938814631469Kang, S.S., P.W. Wong, A. Susmano, J. Sora, M. Norusis and N.N. Puggie,199148536545Jacques, P.F., A.G. Bostom, R.R. Williams, R.C. Ellison and J.H. Eckfeldt et al.,19969379Delvin, E.E., R. Rozen, A. Merouani, J. Genest Jr. and M. Lambert,20007214691473Tonstad, S., H. Refsum, M. Sivertsen, M.B. Christophersen, L. Ose and P.M. Ueland,1996404752Yoo, J.H., C.S. Chung and S.S. Kang,19982924782483Giles, W.H., J.B. Croft, K.J. Greenlund, E.S. Ford and S.J. Kittner,19982924732477Alfthan, G., J. Pekkanen, M. Jauhiainen, J. Pitkaniemi and M. Karvonen et al.,1994106919Kelly, P.J., J. Rosand, J.P. Kistler, V.E. Shih, S. Silveira, A. Plomaritoglou and K.L. Furie,200259529536Meiklejohn, D.J., M.A. Vickers, R. Dijkhuisen and M. Greaves,2001325757Bots, M.L., L.J. Launer, J. Lindemans, A.W. Hoes and A. Hofman et al.,19991593844Brattstrom, L., A. Lindgren, B. Israelsson, M.R. Malinow, B. Norrving, B. Upson and A. Hamfelt,199222214221Chambers, J.C., A. McGregor, J. Jean-Marie, O.A. Obeid and J.S. Kooner,19999911561160Selhub, J., P.F. Jacques, A.G. Bostom, R.B. D'Agostino and P.W. Wilson et al.,1995332286291