Methylene Tetrahydrofolate Reductase (MTHFR) Mutation in a Young Patient with Stroke: A Case Report

Case Report

Austin Neurol. 2021; 4(1): 1015.

Methylene Tetrahydrofolate Reductase (MTHFR) Mutation in a Young Patient with Stroke: A Case Report

Neethu S¹, Vidya MV² and Abdul Jalal MJ³*

¹Department of Family Medicine, VPS Lakeshore Hospital, India

²Department of Neurology, VPS Lakeshore Hospital, India

³Department of Internal Medicine and Rheumatology, VPS Lakeshore Hospital, India

*Corresponding author: Muhammed Jasim Abdul Jalal, Department of Internal Medicine and Rheumatology, VPS Lakeshore Hospital, Kochi, Kerala, India

Received: January 09, 2021; Accepted: January 27, 2021; Published: February 03, 2021

Abstract

The etiology of young stroke is mainly contributed by genetic mutations in coagulation and metabolic pathways. We present a 29-year-old male, who presented with headache and weakness and later diagnosed to have posterior cerebral artery territory infarct. We highlight MTHFR mutation as an etiology of young stroke and the importance of family screening in such patients.

Keywords: Young stroke; Hyperhomocysteinemia; Methylene tetrahydrofolate reductase (MTHFR); Gene mutation; Headache

Introduction

Cerebrovascular accidents in young are commonly not caused by the usual risk factors in old age rather due to many genetic mutations in coagulation and metabolic pathways. MTHFR C677T polymorphism results in dysregulated folate mechanism and hyperhomocysteinemia. This is a case presented with headache and weakness and later diagnosed to have posterior cerebral artery territory infarct. A search for the etiology revealed hyperhomocysteinemia and associated heterogeneous Methylenetetrahydrofolate Reductase (MTHFR) mutation. Family screening exposed the asymptomatic homocysteinemia in younger brother.

Case Presentation

A 29-year-old male presented with sudden onset vomiting and headache followed by weakness and diminished vision. Patient has history of recurrent migraine attacks with aura. He doesn’t have any seizures or dysarthria or loss of consciousness. General examination didn’t reveal any pallor, icterus, clubbing, cyanosis, and edema or generalized lymph node enlargement. Patient was afebrile with stable vital signs. He was conscious and oriented. Pupils were equal and reactive to light. Extra ocular movements were normal. Cranial nerve examination showed right hemianopia. On motor system examination, upper limb and lower limb had grade 4 powers in right side and grade 5 in left side. There were no sensory losses. All deep tendon reflexes were present. Bilateral plantar reflexes did not show babinski sign. He didn’t have any signs of meningeal irritation or cerebellar signs. Other systemic examinations didn’t reveal any abnormalities.

Baseline blood investigations including Hemogram were within normal limits. Renal and liver function tests, electrolytes and blood sugar values were normal. CT Brain revealed ill-defined hypo-dense area in the left thalamus & posterior limb of internal capsule (Figure 1A) and hypo-dense area in the left parieto-occipital region (Figure 1B). Pro-coagulant and vasculitic work-up were done along with cardiovascular screening and imaging since the patient had stroke in young age. Echocardiogram and holter monitoring were negative for any pathology and vasculitic work up didn’t reveal any positive results. Lipid profile showed dyslipidemia. Homocysteine level was found to be high. Thrombotic profile disclosed heterogeneous mutation of Methylenetetrahydrofolate Reductase (MTHFR) gene. Patient was started on antiplatelet and anti-edema measures with supportive medications. Dyslipidemia was treated with statins. On follow up visit, he had persistent spasticity in right upper limb with improved vision. Family screening for homocystinemia revealed elevated level in his asymptomatic younger brother.

Citation: Neethu S, Vidya MV and Abdul Jalal MJ. Methylene Tetrahydrofolate Reductase (MTHFR) Mutation in a Young Patient with Stroke: A Case Report. Austin Neurol. 2021; 4(1): 1015.