Optic neuropathy in the context of leukemia or lymphoma: diagnostic approach to a neuro-oncologic emergency

Abstract

Background Optic neuropathy in the context of leukemia or lymphoma has a broad differential diagnosis, including infiltration, infection, inflammation, compression, and medication effects. Confirming the underlying etiology in a timely manner is crucial as, while infiltration carries a poor prognosis, treatment modalities can have serious consequences themselves. Methods A review of the literature was conducted for cases of isolated optic neuropathy in the context of leukemia or lymphoma, in which the underlying etiology remained unclear following initial clinical examination and neuroimaging. Clinical, radiological, and pathological characteristics of the cases are summarized. Results Ninety-two cases meeting inclusion criteria were identified. Leukemic or lymphomatous infiltration was the presumed diagnosis in 72% of the reports, indicating this is the most likely etiology in such cases. The remaining reports were attributed to inflammation, infection, or drug toxicity. For illustrative purposes, the previously unpublished case of an 11-year-old girl with remitted T lymphoblastic lymphoma is presented. She suffered recurrence in the form of isolated left optic nerve infiltration that required transconjunctival biopsy to confirm diagnosis. Conclusions Optic nerve infiltration by leukemia or lymphoma requires both diagnostic certainty and urgent management. Recommendations are made for a step-wise, yet rapid investigative approach that may ultimately require biopsy of the optic nerve.

Stage IV Small Lymphocytic Lymphoma Presenting with Unilateral Vision Loss

“…Optic nerve biopsy results were also presented in a case by Myers et al in a patient with recurrent vision loss and a history of T lymphoblastic lymphoma in remission. The biopsy showed lymphoblastic infiltration with atypical lymphoid cells with morphology like the original disease [8].…”

“…If there is high clinical suspicion of CLL/SLL involvement in the optic nerve, immediate orbital radiation and induction chemotherapy may be necessary to preserve vision. MRI of the brain and orbit should be done as soon as possible to narrow down the differential, visualize any possible compressive lesions, and determine location of the disease [8].…”

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

“…There are limited reports available of such in the literature. An extensive literature review conducted by Myers et al on cases of isolated optic neuropathy in the context of haematological malignancy found 66 cases between 1966 and 2015, of which 36 were attributed to leukaemic infiltration 4. More than half of the cases were secondary to ALL while only five cases were associated with AML, in which none had optic neuropathy as the sole and initial presentation.…”

“…These include presence of leptomeningeal and pachymeningeal enhancement, or enhancement of other cranial nerves 6. In the event of severe visual loss or cases with equivocal diagnosis after preliminary investigations, optic nerve biopsy should be considered as soon as possible as the consequences of a missed or delayed diagnosis outweigh procedural risks 4 13…”

“…Differentials are listed in the order that is considered most likely according to the clinical parameters with which our patients present. 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…”