Key Takeaway:
- Rare presentation: Bilateral painless vision loss may be the first sign of leptomeningeal metastasis in esophageal adenocarcinoma.
- Systemic response isn’t enough: CNS progression can occur even when cancer elsewhere is responding to treatment.
- Early evaluation matters: Optic nerve sheath enhancement and abnormal CSF findings should prompt evaluation for leptomeningeal spread.
A 70-year-old man with metastatic esophageal adenocarcinoma developed painless bilateral vision loss from probable leptomeningeal metastasis four months into treatment, even as his cancer was responding elsewhere, according to a case report published Sept. 7.
Vision loss signals rare cancer spread
The patient initially developed progressive difficulty swallowing and was diagnosed with esophageal adenocarcinoma containing signet-ring cell features. Imaging showed cancer had spread to lymph nodes, bones and the left iliopsoas muscle.
Doctors treated him with folinic acid, fluorouracil and oxaliplatin, known as FOLFOX, combined with pembrolizumab. After six treatment cycles, imaging showed a marked systemic response, with improvement in his swallowing symptoms.
About four months after treatment began, he developed blurred vision in both eyes without headache, neck stiffness, nausea, or other neurological symptoms. The vision loss progressed over several days and was worse in the right eye.
The authors described the presentation as unusual because the patient’s initial symptom was isolated, painless bilateral visual loss rather than the headache, confusion, balance problems, or other neurological symptoms commonly associated with leptomeningeal metastasis.
MRI and spinal fluid point to metastasis
An examination found severe visual impairment, abnormal color vision, and swelling of both optic discs. Magnetic resonance imaging showed enhancement around both optic nerves as well as subtle enhancement of the leptomeninges, the membranes surrounding the brain.
No brain mass or other parenchymal metastasis was identified. The imaging pattern raised concern that cancer had spread into the space surrounding the brain and optic nerves.
The medical team considered several possible explanations, including pembrolizumab-associated optic neuritis, inflammatory disease, infection and paraneoplastic disease. High-dose dexamethasone produced only temporary improvement.
The patient’s condition then worsened rapidly. He developed urinary incontinence, difficulty walking, leg weakness, and cognitive decline.
A lumbar puncture found elevated cerebrospinal fluid protein, mild lymphocytic inflammation, and rare atypical cells considered suspicious for cancer. Cultures and flow cytometry were negative, and the sample did not provide enough cells for definitive testing.
The authors concluded that the combination of the patient’s known metastatic cancer, progressive neurological symptoms, MRI findings, and abnormal cerebrospinal fluid supported a diagnosis of probable leptomeningeal metastasis, despite nondiagnostic cytology.
Systemic response fails to prevent CNS progression
The case report highlights what its authors described as a possible example of discordant cancer progression: disease outside the brain responded to treatment while cancer simultaneously progressed within the central nervous system.
Whole-brain radiation therapy was started at 30 gray over 10 planned treatments but was stopped after one session because the patient’s neurological condition continued to deteriorate. Intrathecal treatment was not pursued because of his poor condition and rapid decline.
The patient transitioned to hospice care and died four weeks after the diagnosis of probable leptomeningeal metastasis.
The report notes that leptomeningeal metastasis is uncommon in esophageal adenocarcinoma and generally carries a poor prognosis. Published cases have more often involved headache, neck stiffness, nausea, confusion, dizziness, balance problems, or other neurological symptoms.
The authors said the case demonstrates that new visual or neurological symptoms should prompt central nervous system evaluation even when cancer elsewhere in the body appears to be responding to treatment.
They also emphasized that imaging should extend beyond the eye sockets when optic nerve sheath enhancement is identified, particularly if there is additional meningeal enhancement elsewhere in the brain.
The case report concludes that bilateral painless vision loss with optic disc swelling can, in rare circumstances, be the first sign of leptomeningeal metastasis from esophageal adenocarcinoma.
