PC1185: All Eyes on the Gastrointestinal Tract: Orbital Pseudotumor Leading to Diagnosis of Crohn's Disease

Introduction: Extraintestinal manifestations (EIMs) are commonly seen in patients (about 25 - 40%) with inflammatory bowel disease (IBD). Although ocular manifestations are seen in approximately 3% patients with IBD, orbital pseudotumor or idiopathic orbital inflammation (IOI) is an extremely rare finding. We present one of the first cases where orbital pseudotumor was the only presenting symptom, eventually leading to the diagnosis of Crohn’s disease in a young child.

Case Description: A 12-year-old male with known wheat allergy presents to the neurologist with a 1-month history of left upper eyelid and periorbital swelling, ptosis, diplopia and pain with extraocular movements. He had bilateral 20/20 vision, but ophthalmoscopy revealed blurred disc margins on the left. Labs were remarkable for elevated inflammatory markers and microcytic anemia. About one year prior to this event, he had similar symptoms on the right eye; CT Head was negative at that time and symptoms resolved spontaneously. This time, MRI Brain showed asymmetric enlargement and enhancement of extraocular muscles, notably along lateral rectus and superior oblique muscles, suggestive of orbital pseudotumor (Figure 1). His additional symptoms of mild intermittent abdominal pain and weight loss along with elevated stool calprotectin prompted a colonoscopy. With ileal biopsy showing villous blunting, focal ulcers with granulation tissue, cryptitis and crypt abscesses, the diagnosis of Crohn’s disease was established (Figure 2). Given the evidence of severe inflammation with extra intestinal manifestations, he was started on adalimumab for the management of Crohn’s disease.

Discussion: IOI is a benign, non-infective clinical syndrome with features of a nonspecific inflammatory process of the orbit without an identifiable etiology. An autoimmune pathophysiology has been suggested based on the presence of circulating autoantibodies (mainly IgG4) against ocular muscle antigens in patients with orbital myositis. Classic triad of symptoms include rapid development of pain, proptosis and generalized swelling around the orbit. IOI has been observed to be associated with other autoimmune disorders like systemic lupus erythematosus, diabetes mellitus, rheumatoid arthritis, myasthenia gravis, ankylosing spondylitis. Some cases of its association with Crohn’s disease have also been reported. However, only one case prior to ours reported multiple episodes of IOI preceding GI symptoms, directly leading to the diagnosis of Crohn’s disease. As expected, IOI responds positively to not only systemic corticosteroids but also other immunosuppressive agents like cyclophosphamide, methotrexate and cyclosporine.

Conclusion: The diagnostic challenges are increased in the pediatric population, just like in our case where the patient did not exhibit any common signs and symptoms associated with Crohn’s disease. This case exemplifies the importance of remembering the rare association between orbital pseudotumor and Crohn’s disease in children. This can help in early diagnosis and management of Crohn’s disease, which will eventually help improve the patient’s symptom profile and also prevent EIMs.