A young soldier with Susac syndrome: a case report

Abstract

Abstract Background Susac syndrome is a rare disease with multisystem manifestations. While the exact pathogenesis is not known, it has been proposed to be an autoimmune endotheliopathy affecting the microvasculature of the brain, retina, and inner ear. The disease is characterized by a triad of encephalopathy, vision loss, and hearing loss. However, patients may not have the triad at initial presentation and present with only a single finding. Case presentation A 25-year-old male resident of Panu Akil presented to Combined Military Hospital Lahore with complaints of dizziness and vertigo associated with severe migraine like headaches. He experienced sudden painless loss of vision in his right eye and was admitted to the medical intensive care unit. On examination, he had right-beating nystagmus and diplopia along with scintillating scotoma. After his admission, contrast-enhanced magnetic resonance imaging (MRI) was done which showed numerous enhancing bilateral white matter internal capsule micro-infarcts indicating typical “string of pearls” sign and a snowball lesion on the corpus callosum. His fundus fluorescein angiography (FFA) did not exhibit any branched retinal artery occlusions (BRAO). Fundoscopy showed the presence of drusen spots. His pure tone audiometry was unremarkable. Based on the highly characteristic findings present on the MRI, a diagnosis of Susac syndrome was made. He was started on injection methylprednisolone 1 gm IV in 500 ml normal saline over 1 h once a day for 5 days and then once a week for 8 weeks. He was also started on tablet mycophenolate mofetil 500 mg once daily for 7 days. Patient showed marked clinical improvement afterwards. Conclusions Susac syndrome is a rare multisystem illness with an often insidious presentation. Patients can be misdiagnosed due to the nonspecific nature of the early complaints present in the disease. High index of suspicion is required for timely diagnosis and adequate management. Although no specific guidelines exist, management consists mainly of immunosuppressants.