Pediatric Cerebral Infarction Unraveled: A Case of MTHFR Mutation and Hyperhomocysteinemia-Case Report

Background Cerebral infarction in children without underlying diseases is rare, and its causes are complex. Case presentation We present a case of a 14-year-old boy who experienced left limb weakness and slurred speech for 5 days. MRI revealed cerebral infarction in the bilateral occipital lobes and right centrum semiovale, with high homocysteine levels. He was diagnosed with cerebral infarction due to hyperhomocysteinemia and treated with anticoagulation. While his symptoms resolved, homocysteine levels remained elevated after 3 months. Genetic testing identified an MTHFR mutation, leading to a treatment adjustment that included betaine, riboflavin, pyridoxine, folate, and hydroxocobalamin. Following 3 months of this new regimen, the patient fully recovered, with normalized homocysteine levels. Conclusions Hyperhomocysteinemia caused by MTHFR mutations should be considered in young patients with unexplained cerebral infarction. The supplementation with betaine, riboflavin, pyridoxine, folate, and hydroxocobalamin was beneficial in decreasing homocysteine levels.