Objective: Variations in the methylenetetrahydrofolate reductase (MTHFR) gene can lead to increased risk of heart disease, stroke, hypertension, psychiatric disorders, and neural tube defects. Neuropsychological functioning of a typically developing 19-year-old male with premorbid psychiatric history and extensive medical complications secondary to MTHFR gene polymorphism is presented. Findings will contribute to the limited literature available regarding neurocognitive functioning related to this rare condition. Method: Patient presented to ER with gastrointestinal bleeding, and later developed seizures, respiratory distress, septic shock, myocardial infarction, ischemic strokes, deep vein thrombosis, hemiparesis, and initial global aphasia. CT scans showed infarcts in the left frontal lobe, right temporal/parietal/occipital region, and bilateral cerebellar hemorrhages. MRI showed areas of restricted diffusion in the bilateral cerebral and cerebellar hemispheres. Once stable, intensive inpatient/outpatient cognitive rehabilitation and psychotherapy followed. Comprehensive neuropsychological testing was conducted approximately one year after onset. Results: Testing revealed Average intelligence and Low Average/Limited academic achievement. Cognitive...

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