Recurrent Ophthalmoplegia Associated with Hyperhomocysteinemia

Abstract

Purpose: This report describes a case of recurrent ophthalmoplegia associated with hyperhomocysteinemia due to methylenetetrahydrofolate reductase (MTHFR) gene polymorphism.Case summary: A 40‐year‐old healthy man presented with acute diplopia. He had a history of diplopia due to left sixth nerve palsy 2 years ago. Prism and alternate cover tests revealed left hypertropia in the primary position. Examination of ductions and versions showed mild elevation of the left eye on adduction. Brain and orbit magnetic resonance imaging were normal. Laboratory studies revealed an elevated level of erythrocyte sedimentation rate (ESR) and homocysteine. A diagnosis of left fourth nerve palsy associated with hyperhomocysteinemia was made. Symptoms were completely resolved within 2 weeks. Two years later, the patient again had diplopia associated with esotropia and limited abduction of the right eye. ESR and homocysteine level were normal. Analysis for MTHFR gene polymorphisms, which contribute to variable hyperhomocysteinemia, revealed 677TT homozygote variant. A diagnosis of recurrent paralytic strabismus associated with hyperhomocysteinemia, caused by MTHFR gene polymorphism, was made. Symptoms resolved within 1 month, and the patient did not have any further recurrence in 6 months.Conclusions: Patients with hyperhomocysteinemia may present with ophthalmoplegia. An analysis for MTHFR gene polymorphisms is needed to diagnose hyperhomocysteinemia.