When I saw the patient, the differential diagnosis was broad and included granulomatous with polyangiitis, sarcoidosis, lymphoma, polychondritis, and Cogan syndrome—as well as the possibility that the entire clinical picture, however atypical, was due to her long-standing, well-defined inflammatory bowel disease. The latter diagnosis may seem unconnected, because inflammatory bowel disease is not usually considered as a cause of neurologic disorders. Although uncommon, it can in fact cause such disorders, including demyelinating disease, sensorineural hearing loss, peripheral nerve disorders, myelopathy, cerebellitis, myopathy, myasthenia gravis, and meningeal involvement. As you might imagine, the treatment options for the varied potential diagnoses noted above varied from steroids to anti-tumor necrosis factor (TNF) medications to rituximab.
It is important to give certain values to signs and symptoms, realizing that each of them has an inherent gravitational pull toward or away from a diagnosis.
The patient had a history of inflammatory bowel disease, which in this case probably resides in the domain between ulcerative colitis and Crohn disease. The patient did have a recent colonoscopy and was asymptomatic on mesalamine. However, we have all seen situations where patients were sent to us with so-called inactive inflammatory bowel disease, and yet they present with asymmetrical large-joint inflammation and sacroiliitis, clearly reflective of active bowel disease despite its "asymptomatic" state. This is also true in inflammatory bowel disease-related neurologic disorders. The fact that the patient already had a long-standing systemic inflammatory disease in the form of inflammatory bowel disease had to be given strong value in any differential diagnosis, however atypical the signs and symptoms.
Bilateral uveitis can be seen in sarcoidosis, inflammatory bowel disease, lymphoma, and granulomatosis with polyangiitis, and so can be given neutral value in this setting.
The markedly elevated sedimentation rate and C-reactive protein level, although reflections of a highly inflammatory disorder, were given neutral value in the differential diagnosis.
A positive antibody to proteinase 3 has a strong gravitational pull in favor of granulomatous polyangiitis. Although it too is nonspecific, it has to be considered in the setting of this patient's illness. Of note, the patient did not have significant sinus, pulmonary, or kidney involvement—all parts of the classical granulomatosis with polyangiitis triad. Although we think of antibodies to proteinase 3 as having great specificity and sensitivity in the diagnosis of granulomatous with polyangiitis, the absence of significant sinus, lung, or kidney disease rule strongly against this diagnosis. Antibodies to proteinase 3 and myeloperoxidase can be seen in other systemic disorders and infections.
A normal angiotensin-converting enzyme level can be seen in as many as 50% of patients with active sarcoidosis. Therefore, a normal level does not rule against sarcoidosis—a diagnosis that could encapsulate pachymeningeal involvement/meningitis with dural enhancement, uveitis, and fever.
Response to high doses of methylprednisolone could be seen in any of the possible disorders noted above.
Although this is a complicated case, a definitive diagnosis was necessary because of the significant variation in therapeutic options between one diagnosis and another. My equation added up to central nervous system, eye, and ear disease due to the patient's already present systemic disease in the form of inflammatory bowel disease.
The patient was treated with high doses of oral steroids and the parenteral anti-TNF medication infliximab, with complete disappearance of all of her symptoms and normalization of her laboratory tests. Four years on, the patient remains asymptomatic off of steroids and on infliximab every 8 weeks.
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Cite this: Bowel and Brain Symptoms: What's the Connection? - Medscape - Jan 26, 2016.