Recurrent Stroke and Peripheral Neuropathy Associated With Multifactorial Hyperhomocysteinemia: A Case Report

Abstract

Background: Hyperhomocysteinemia is a known risk factor for stroke and neuropathy, though their coexistence is rare.

Case Description: A 43-year-old male with chronic myeloid leukemia developed progressive neuropathy and later suffered an ischemic stroke. Investigations revealed severe hyperhomocysteinemia and vitamin B12 deficiency, likely due to chronic nitrous oxide use, folate supplementation without cobalamin, and malnutrition. Despite B12 supplementation, recurrent strokes led to the identification of a homozygous MTHFR 677C>T mutation.

Conclusions: This case underscores the essential need to consider all contributing factors and conduct a comprehensive etiological workup, avoiding a narrow focus on obvious causes.