Acute Myeloid Leukemia Relapse Presenting as Complete Monocular Vision Loss due to Optic Nerve Involvement

Abstract

Acute myeloid leukemia (AML) involvement of the central nervous system is relatively rare, and detection of leptomeningeal disease typically occurs only after a patient presents with neurological symptoms. The case herein describes a 48-year-old man with relapsed/refractory AML of the mixed lineage leukemia rearrangement subtype, who presents with monocular vision loss due to leukemic eye infiltration. MRI revealed right optic nerve sheath enhancement and restricted diffusion concerning for nerve ischemia and infarct from hypercellularity. Cerebrospinal fluid (CSF) analysis showed a total WBC count of 81/mcl with 96% AML blasts. The onset and progression of visual loss were in concordance with rise in peripheral blood blast count. A low threshold for diagnosis of CSF involvement should be maintained in patients with hyperleukocytosis and high-risk cytogenetics so that prompt treatment with whole brain radiation and intrathecal chemotherapy can be delivered. This case suggests that the eye, as an immunoprivileged site, may serve as a sanctuary from which leukemic cells can resurge and contribute to relapsed disease in patients with high-risk cytogenetics.

Optic neuropathy as the first sign of central nervous system relapse in acute myeloid leukaemia: MRI findings and its diagnostic challenge

“…Patel reported a patient with AML relapse who similarly presented with visual loss. MRI of the brain and orbits showed enhancement in the optic nerve, trigeminal nerve and cerebellum 1…”

“…Acute myeloid leukaemia (AML) is cancer of the myeloid lineage of the blood cells where there is over production of abnormal myeloblasts 1…”

“…Extramedullary involvement is rare, with skin, leptomeningeal, testicular and ocular involvement reported previously 2 3. Extramedullary involvement is associated with decreased rate of complete response, disease-free survival and overall survival 1. Early recognition of central nervous system (CNS) involvement of AML is important.…”

“…As different aetiology carries different prognostic implications necessitating different treatment modalities, confirming the underlying aetiology in a timely manner is crucial 4. Optic nerve infiltration as the sole presentation of AML relapse is extremely rare, and a high index of suspicion is required 1…”

Complete Recovery of Vision after Optic Nerve Relapse of Acute Lymphoblastic Leukemia

“…Published treatments typically consist of chemotherapy, steroid administration, localized radiation, or a combination thereof. [7][8][9][10] One report of using radiation alone was shown to be effective in bringing the infiltration to regression and regaining vision, but this case was isolated to the optic nerve head and a 1-year time course was reported for complete recovery. 8 Another report showed that Dasatinib alone can also be effective in treating optic nerve infiltration in a Philadelphia chromosome positive patient.…”