By Michael Gochfeld (March 23, 2022)
Jennifer Bagley, MD, MPH, a recent graduate of our Occupational & Environmental Medicine Residency, the RBHS Preventive Medicine Residency and the School of Public Health, deserves a accolades for her astute recognition of a hitherto unknown clinical entity, i.e. a NEW DISEASE. A 38 year old woman with multiple surgeries to relieve intractable pain in various locations created a puzzling constellation of pathologic, clinical, and psychologic findings. Resisting the suggestion that this might represent Munchausen Syndrome, Dr. Bagley followed instincts and science, convincing her and in turn convincing her mentors and colleagues at EOHSI, that this was an unknown condition of nervous system pathology. The investigation of residential exposure to a large variety of toxic chemicals did not clarify the etiology or diagnosis.
In response to inquiries, EOHSI Toxicologist Marion Gordon, PhD, pointed Dr. Bagley to the rheumatology group of Sergio Jimenez MD and Fabian Mendoza, MD at Thomas Jefferson University (Philadelphia). They accepted the referral and pursued the clinical and pathological diagnosis, and validated Dr. Bagley’s suspicion. Extensive clinical and laboratory testing “did not identify any primary inflammatory, genetic, neuropathy, or known basis for the disease.” Congratulations also to Dr. Mendoza et al. for writing up this patient and a similar case, as a novel disease (see citation and link below), and for giving it a name. The disease is now known as Progressive Multifocal Fibrosing Neuropathy. The putative toxic basis for the disease is still being considered.
Medical students and residents are admonished “when you hear hoof-beats think of horses, not zebras.”
But there are zebras out there waiting to be recognized and published. New molecules, new treatments, new guidances appear regularly as well as new diseases attributed to emerging infections. Truly new, non-infectious diseases are uncommon by comparison. By listening carefully to her patient, and arguing convincingly with her attendings, Dr. Bagley found a very special zebra.
Mendoza, J. Bagley, M. Gochfeld, M.V. Dalakas, J.L., and S.A. Jimenez 2022 Progressive Multifocal Fibrosing Neuropathy: Description of a Novel Disease. Acta Neuropathologica Communications (2022) 10:34 https://doi.org/10.1186/s40478-022-01341-8
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