Ocular Myasthenia Gravis Unmasking Molecularly High-Risk but Clinically Indolent Chronic Lymphocytic Leukemia: A Case Report
Haider Bin Khalid, Muhammad Furqan, Zain Ul Abedin, Mehwish Saleem, Mata-e-Alla Dogar, Maryam Saqib, Sadia Binte Rahim, Muhammad Usman Haider, Shaik Abdul Samad Shaik Abdul RashidIntroduction
We report a patient who presented with acute-onset diplopia and fatigable ptosis, subsequently diagnosed with Myasthenia Gravis based on elevated acetylcholine receptor antibodies. Neuroimaging and chest imaging were unremarkable, excluding structural causes and thymoma.
Case Presentation
During evaluation, persistent lymphocytosis prompted further hematologic workup, which confirmed early-stage Chronic Lymphocytic Leukemia with trisomy 12 and a TP53 mutation. The patient received pyridostigmine and a tapering course of corticosteroids, resulting in rapid clinical improvement and complete resolution of ocular symptoms. The leukemia remained asymptomatic and was managed conservatively with a watchful waiting approach. The clinical course was favorable with sustained remission of myasthenia gravis off therapy and stable hematologic parameters on follow-up.
Conclusion
This case highlights the diagnostic interplay between autoimmune and lymphoproliferative disorders and underscores the importance of a multidisciplinary approach in managing such overlapping clinical entities.