Diagnosis and Management of Acute Ischemic Stroke In Young Adult Homozygous For MTHFR C667T Variant With Moderate Hyperhomocysteinemia: A Case Study

Background: Hyperhomocysteinemia (HHcy) is a modifiable risk factor controversially associated with cardiovascular, cerebrovascular, and thromboembolic events. Despite mixed evidence regarding its causal role in the pathogenesis of vaso-occlusive events, understanding its impact remains crucial. This case report aims to contribute to the ongoing discussion and support the association between homocysteinemia and cerebrovascular events, particularly in young adults. The novelty of this case lies in the patient's demographic, the presence of homozygosity for the MTHFR C677T allele variant, and the subsequent acute ischemic stroke, providing valuable insights into the clinical management and potential genetic implications of HHcy. Case Presentation: A 25-year-old male presented with acute bilateral vision changes. Initial examination revealed significant vitreous haze and white without pressure in both eyes, leading to concerns about severe inflammation and potential retinal detachment. 3 months later, he developed acute horizontal diplopia and was diagnosed with esotropia bilateral diplopia, 6th nerve palsy, and a 3.2 mm left periventricular ischemic stroke via MRI brain w/wo contrast. Subsequent testing revealed moderate HHcy and homozygosity for the MTHFR C677T variant. The patient's medical history included chronic migraines, generalized anxiety disorder, vitiligo, and moderate persistent asthma. There was no family history of chronic migraines or stroke, though both parents had hypertension and diabetes. Neurological examination in March 2024 showed increased right upper extremity reflexes and a positive right Babinski sign. Ocular examination by ophthalmologist revealed thinning of the nerve fiber layer and tilted crowded optic nerves with indistinct margins. Laboratory tests showed elevated homocysteine levels (20.5 μmol/L) and decreased protein S, alongside a positive test for two copies of the MTHFR C677T variant. These findings alongside the March 2024 MRI positive for periventricular ischemic stroke, negative Holter, and negative infectious workup gave answer to the etiology of the stroke on such a young patient. The patient was prescribed antiplatelet therapy with daily aspirin 81mg, folic acid supplementation, and his symptoms of diplopia improved significantly over time. Conclusions: This case underscores the clinical importance of recognizing and managing hyperhomocysteinemia in young adults presenting with acute cerebrovascular events. The association between HHcy and ischemic stroke, particularly in the context of MTHFR C677T homozygosity, highlights the need for thorough genetic and metabolic evaluation in similar cases. Early diagnosis and intervention can lead to significant improvements in patient outcomes, emphasizing the potential implications for both clinical practice and future research into the genetic factors influencing HHcy and its related vascular risks