Abstract
We report a 13-year-old girl with nephropathic cystinosis on chronic peritoneal dialysis who presented with two episodes of stroke. Laboratory evaluation showed severe hyperhomocysteinemia (108 µmol/l). Further testing revealed that she was homozygous for the thermolabile variant of the methylenetetrahydrofolate reductase (MTHFR) gene. Treatment with folic acid and vitamin B12 lowered plasma homocysteine to less than 20 µmol/l. No further episodes of stroke occurred over a follow-up of 12 months. Homocysteine levels should be measured in patients with chronic renal failure, since simple and safe treatment with folic acid and vitamin B12 is effective in lowering the plasma homocysteine level in patients with the thermolabile MTHFR allele.
Similar content being viewed by others
Author information
Authors and Affiliations
Additional information
Received: 23 October 1997 / Revised: 19 May 1998 / Accepted: 27 May 1998
Rights and permissions
About this article
Cite this article
Merouani, A., Genest Jr., J., Rozen, R. et al. Cerebral vascular complication and hyperhomocysteinemia in a cystinotic uremic child. Pediatr Nephrol 13, 73–76 (1999). https://doi.org/10.1007/s004670050567
Issue Date:
DOI: https://doi.org/10.1007/s004670050567