Bilateral optic nerve infiltration in a patient with acute myeloid leukaemia

Abstract

A 48-year-old man with a history of diabetes and polyneuropathy presented with a severe headache following tooth extraction. He was diagnosed with an ipsilateral sigmoid sinus thrombosis. Coincidently, acute myeloid leukaemia with NPM1 mutation and FLT3-internal tandem duplication was established. The patient did not have hyperleucocytosis and was treated with cytarabine and idarubicin. Despite anticoagulant therapy the headache persisted, suggesting an elevated intracranial pressure. Lumbar puncture showed an elevated pressure of 35 cm H2O and the patient’s headache resolved after drainage of spinal fluid. Several days later, however, he experienced vision loss (visual acuity 0AE6 in the right eye and 0AE9 in the left). Fundoscopy showed bilateral leukaemic infiltration of the optic nerve in both eyes (left panel; left eye shown) and radiation therapy was started promptly (6 Gy in one fraction). Within 2 days, visual acuity returned to normal and 2AE5 months later, fundoscopy showed marked improvement in both eyes (right panel; left eye shown). The patient was subsequently treated with intrathecal cytarabine and, ultimately, allogeneic stem cell transplantation. Acute myeloid leukaemic infiltration of the optic nerve is very rare and this is considered a sanctuary site for chemotherapy. It may be associated with monocytic markers and expression of CD56, both of which were found in our patient. As optic nerve infiltration may result in blindness, emergency radiation therapy is indicated.