Ischemic Stroke in a 14-year-old Boy with Homozygous C677T MTHFR Mutation

A 14-year- old boy with no history of immunological or neurological disorders was admitted to our hospital because of acute onset of right side hemiparesis, aphasia, and dysphagia.

The patient's medical history was unremarkable except for a flu 10 days previously, but he never had a chickenpox-associated rush. Cerebrospinal fluid showed varicella-zoster virus IgG positive, IgM negative. Serum serology revealed varicella-zoster virus IgG and IgM positive.

MRI of the brain demonstrated two older and one recent infarction in different areas. Moderate elevated homocysteine levels (30.1µmol/L, normal 4.7 to 14µmol/L) were detected due to a homozygous C677T alleles for the 5,10-methylentetrahydrofolate reductase (MTHFR) gene, folate and cobalamin were in the normal range.

The MTHFR mutation is very rare, compared with the CBS (Cystathionine β Synthetase) deficiency. Expanded newborn screening allow the screening of CBS deficiency, but not currently for the MTHFR Deficiency.

The patient was treated with acetylsalicyclic acid 100 mg/d, neurological symptoms regressed completely. We completed the therapy with folic acid, cobalamin and pyridoxine. In the following 2 years, our patient had no neurological symptoms or migraine.

We assume that our patient suffered from a silent infarction a few weeks before and a recent infarction with neurological symptoms because of the homozygous MTHFR mutation and the presence of a varicella virus infection.

Due to the low incidence of arteriosclerosis and thrombosis in children or adolescents, homocysteinemia should be excluded in any case presenting with these clinical manifestations.