Orbital myositis last year and now Crohn’s disease: A case report of a rare association

Abstract

Crohn’s disease is a chronic inflammatory bowel disease in which extraintestinal manifestations may occur before the onset of intestinal symptoms. Ocular manifestations, such as orbital myositis, are extremely rare as initial presentations. We present an interesting case of a 10-year-old female who presented with fever, abdominal pain, weight loss, diarrhea, and purulent rectal drainage and was subsequently diagnosed with Crohn’s disease. Notably, she had been diagnosed with orbital myositis the previous year after presenting with right-greater-than-left eyelid drooping, swelling, pain, and redness. This case underscores the importance of recognizing the rare yet clinically significant association between orbital myositis and Crohn’s disease. Awareness of this relationship may facilitate prompt diagnosis and earlier therapeutic intervention, potentially preventing disease progression or complications. Clinicians should consider inflammatory bowel disease in their differential diagnosis workup of patients presenting with initial symptoms concerning for orbital myositis.

Educational objectives

• Crohn’s disease is an inflammatory bowel disease where extraintestinal manifestations may precede intestinal symptoms.

• It is important to recognize the rare yet valuable association between orbital myositis and Crohn’s disease to allow for earlier diagnosis and treatment.

Introduction

Inflammatory bowel disease (IBD) is a chronic condition characterized by inflammation of the gastrointestinal (GI) tract and commonly presents with diarrhea, with or without bleeding, abdominal pain, and weight loss. ¹ The two main forms of IBD are ulcerative colitis and Crohn’s disease. Ulcerative colitis typically involves continuous inflammation extending from the anus proximally through the colon, whereas Crohn’s disease is characterized by discontinuous lesions that may occur anywhere from the mouth to the anus.^2,3 Both conditions are managed with medications like biologics, immunomodulators, and corticosteroids, in addition to lifestyle and dietary modifications.^4,5

IBD may also present with symptoms outside of the GI tract. Orbital myositis is a rare extraintestinal manifestation associated with Crohn’s disease, presenting as an idiopathic acute condition or secondary to a systemic autoimmune, inflammatory, or infectious process. ⁶ It is characterized by inflammation of the extraocular muscles and commonly presents with eye pain that worsens with eye movement, as well as visual changes. ⁶ This case report highlights a rare but clinically significant association between orbital myositis and Crohn’s disease in a pediatric patient.

Case presentation

A 10-year-old female presented to the emergency department (ED) with a 2-month history of worsening right-greater-than-left eyelid drooping, swelling, pain, and erythema, as well as several days of new-onset nausea, vomiting, anorexia, headaches, and retro-orbital eye pain. Her symptoms initially began in the left eye and were partially relieved with outpatient antibiotic and steroid drops; however, similar symptoms subsequently developed in the right eye and progressed to bilateral involvement despite treatment. One week prior to presentation, she was evaluated by her primary care physician (PCP) and prescribed an oral course of cephalexin without improvement. She also reported pain with extraocular movements, resulting in difficulty sleeping, daily headaches occurring both during the day and at night, and decreased appetite, which ultimately prompted her ED visit. Vital signs were within normal limits on arrival; however, she developed bradycardia to the 20s during extraocular movement examination, consistent with oculo-cardiac reflex. Physical examination was otherwise notable for anisocoria, left-sided ptosis, and right-sided periorbital edema, erythema, and proptosis. The differential diagnosis included IgG4-related disease, vasculitis, sarcoidosis, orbital myositis, orbital pseudotumor, complicated sinusitis, idiopathic intracranial hypertension, and intracranial mass.

At this time, computed tomography (CT) of the head and maxillofacial region revealed asymmetric enlargement and enhancement of the retrobulbar peri-muscular tissues, more pronounced on the right than the left, as well as cervical lymphadenopathy (Figure 1). Pediatric ophthalmology was consulted and recommended further evaluation, including complete blood count with differential, comprehensive metabolic panel, erythrocyte sedimentation rate (ESR), c-reactive protein (CRP), IgG4, thyroid studies, antinuclear antibody (ANA), rheumatoid factor, angiotensin-converting enzyme, lysozyme, and antineutrophil cytoplasmic antibody panel, along with additional imaging with magnetic resonance imaging (MRI) of the brain and orbits and chest radiography to evaluate for sarcoidosis. She was started on intravenous (IV) methylprednisolone 30 mg twice a day and admitted to the pediatric intensive care unit due to risk of recurrent bradycardic episodes and concern for asystole.

Figure 1.

CT head and maxillofacial revealed multiple bilateral enlarged extraocular muscles with greatest involvement of the right medial rectus muscle (thick black arrow). Mild inflammatory stranding within the medial intraconal fat adjacent to the right medial rectus muscle (thin white arrow) also visualized on the coronal image.

Following admission, pediatric rheumatology recommended additional laboratory testing, which revealed elevated ESR and CRP, a positive ANA, negative extractable nuclear antigen antibodies, elevated IgG4, and a positive double-stranded DNA (dsDNA) antibody, with repeat dsDNA testing subsequently negative. Chest radiography showed no evidence of mediastinal or hilar lymphadenopathy. MRI of the orbits illustrated findings consistent with those seen on prior CT imaging. An extraocular muscle biopsy was performed and confirmed the diagnosis of orbital myositis, revealing fibrosis and scarring of the right lacrimal gland and right medial rectus muscle without evidence of IgG4-related disease or sarcoidosis. The patient was discharged home on oral prednisone 30 mg twice a day with a taper and outpatient rheumatology and ophthalmology follow-up. She demonstrated clinical improvement over the subsequent weeks, ~7 months prior to the onset of her GI symptoms.

Nine months following discharge, she subsequently presented to the ED with a 1-day history of new-onset purulent rectal drainage in the setting of a 2-month history of abdominal pain, diarrhea, and weight loss. Her abdominal pain was described as intermittent, localized to the periumbilical region, and refractory to treatment with famotidine for presumed gastroesophageal reflux prescribed by her PCP. Over the preceding month, she experienced an unintentional 10-pound weight loss and reported eight or more stools per day, fluctuating between diarrheal and normal consistency. She also had intermittent fevers up to 101 °F, occurring at least once weekly and resolving with acetaminophen. She denied vomiting, oral ulcers, hematochezia, rashes, dizziness, or visual changes. She reported no recent sick contacts. Notably, there was no relevant family history of autoimmune or GI disease.

Vital signs were within normal limits. Physical examination was notable for mild tenderness to palpation of the perianal region with significant purulent drainage, without bleeding, masses, or fissures. Initial laboratory studies demonstrated an elevated ESR of 79.0 mm/h, elevated CRP of 6.5 mg/dL, mildly elevated lipase of 53.0 U/L, fecal calprotectin >800.0 µg/g, thrombocytosis with a platelet count of 4.3 × 10⁵/µL, a normal white blood count with a left shift, and iron-deficiency anemia with a hemoglobin level of 9.7 g/dL, concerning for chronic blood loss.

The differential diagnosis included IBD, proctitis, irritable bowel syndrome, infectious colitis, mesenteric ischemia, and bowel perforation. Given the presence of perirectal purulent drainage, a CT scan of the abdomen and pelvis was obtained, revealing inflammation of the ileum and gluteal cleft, mesenteric lymphadenopathy, and a 2.0 × 1.2 × 1.9 cm fluid collection in the left gluteal cleft (Figure 2). Pediatric surgery was consulted and recommended no acute surgical intervention at that time. The patient was initially started on IV clindamycin 600 mg every 8 h to cover for methicillin-resistant Staphylococcus aureus (MRSA) as medical management of the abscess, with plans for admission to the pediatric hospitalist service for further evaluation and workup.

Figure 2.

CT abdomen/pelvis showed mild bowel wall thickening of the terminal ileum and mild, prominent mesenteric lymph nodes, likely reactive as illustrated by the thick white arrows. Small left perianal fluid collection measuring 2.0 × 1.2 × 1.9 cm visualized in the axial image by the thin white arrow.

Upon admission to the pediatric floor, pediatric rheumatology and pediatric gastroenterology were consulted. Further laboratory workup showed elevated IgG4 levels with negative fecal occult blood testing, GI pathogen panel, hepatitis panel, and varicella antibody testing. The patient also had a negative MRSA swab and thus was transitioned to IV metronidazole 500 mg every 8 h and IV ceftriaxone 50 mg/kg daily for empiric intraabdominal coverage. She was also started on oral pantoprazole 20 mg. Given concern for IBD, she underwent an upper GI endoscopy and colonoscopy, which showed esophagitis with esophageal ulcerations and inflammation of the ileocecal valve, cecum, terminal ileum, sigmoid colon, and rectum with superficial ulcerations, findings consistent with Crohn’s disease (Figure 3). She was subsequently discharged home on oral metronidazole 500 mg every 8 h and oral pantoprazole 20 mg with gastroenterology and rheumatology follow-up for long-term disease management.

Figure 3.

Endoscopy and colonoscopy showed esophagitis with esophageal ulcers, inflammation of the ileocecal valve, cecum, terminal ileum, sigmoid, and rectum, suggestive of Crohn’s disease.

Discussion

Interpretation of the case

This case highlights a rare and diagnostically challenging presentation of orbital myositis that preceded the subsequent development of Crohn’s disease, suggesting a possible shared inflammatory or immune-mediated pathophysiology. Our patient developed typical IBD symptoms such as weight loss, abdominal pain, and diarrhea ~7 months following her orbital myositis diagnosis. The later diagnosis of Crohn’s disease raises the possibility that orbital myositis represented an early extraintestinal manifestation of IBD, occurring months before any GI involvement became clinically apparent.

A key strength of this case report is the comprehensive, multidisciplinary evaluation involving ophthalmology, rheumatology, gastroenterology, pediatric surgery, radiology, and pathology, which allowed for systematic exclusion of alternative diagnoses and histological confirmation. The longitudinal follow-up also allowed for the illustration of a potential temporal relationship between orbital inflammation and evolving systemic disease. However, as a single case report, a causal association between orbital myositis and Crohn’s disease cannot be definitively established. Despite this limitation, the case underscores the importance of maintaining a high index of suspicion for systemic inflammatory disease in pediatric patients presenting with orbital inflammation.

Discussion with literature review

Crohn’s disease is a chronic inflammatory condition affecting the GI tract, characterized by discontinuous lesions that may involve any region from the mouth to the anus. ⁷ Common presenting symptoms include abdominal pain, diarrhea, rectal bleeding, fever, weight loss, and fatigue. ² Extraintestinal manifestations occur in ~25%–40% of patients with IBD. ⁸ These manifestations include inflammatory arthropathies, hypertrophic osteoarthropathy, aphthous ulcers, scleritis, nutritional deficiencies, primary sclerosing cholangitis, granulomatous disease, nephrolithiasis, cholelithiasis, and erythema nodosum. ⁸ However, ocular manifestations are relatively uncommon, occurring in only 0.3%–5% of patients with IBD; episcleritis, scleritis, and anterior uveitis are the most frequently reported, whereas orbital myositis remains rare. ⁸

Orbital myositis typically presents with unilateral painful diplopia, periorbital edema, proptosis, and ophthalmoplegia due to inflammation of one or more extraocular muscles. ⁹ It most commonly presents as an idiopathic acute condition and is often successfully treated with a course of oral corticosteroids. ¹⁰ However, orbital myositis may also be associated with systemic autoimmune, inflammatory, infective, drug-induced, or paraneoplastic conditions. ¹⁰ Among autoimmune disorders, IBD is the most frequently reported association. ¹⁰ When IBD is not recognized early, patients are at increased risk for recurrent episodes of orbital myositis, which may become bilateral because of ongoing, untreated systemic inflammation.^9,10

Both orbital myositis and Crohn’s disease are characterized by immune dysregulation, elucidating the role of systemic inflammatory processes in the development of extraintestinal manifestations of Crohn’s disease, such as orbital myositis. ⁷ Although the precise pathophysiologic mechanism responsible for the extraintestinal manifestations of IBD remains incompletely understood, several autoimmune processes have been proposed. These include aberrant self-recognition, inappropriate antigen presentation of auto-antigens, and the production of immunopathogenic auto-antibodies directed against organ-specific cellular antigens that may be shared between colon and extraintestinal tissues.^7,11 In Crohn’s disease, both innate and adaptive immune pathways are dysregulated, resulting in a sustained inflammatory response mediated by proinflammatory cells and cytokines, including macrophages, neutrophils, and T-helper cells. ¹² These inflammatory processes may give rise to nonspecific inflammatory symptoms as well as clinically significant extraintestinal manifestations, including orbital myositis, as observed in our patient. It is therefore plausible that underlying systemic immune activation was present prior to the onset of GI symptoms, manifesting initially as extraintestinal disease. Despite these proposed mechanisms, definitive evidence delineating the exact pathophysiologic pathways remains lacking, highlighting a critical gap in current understanding and the need for further investigation.

Although the exact mechanisms remain unclear, early diagnosis of Crohn’s disease is critical to prevent future disease-related complications. Patients with Crohn’s disease require long-term monitoring for malignancy, osteoporosis, anemia, nutritional deficiencies, depression, infection, and thromboembolic events. ² In pediatric populations, additional considerations include impaired growth, delayed pubertal development, reduced bone mineral density, and psychosocial stressors. ¹³ Furthermore, treatment options are more limited in pediatric patients compared with adults. Therefore, maximizing preventative measures, recognizing early atypical manifestations, such as orbital myositis, and starting prompt treatment are essential to optimizing outcomes and caring for pediatric patients with Crohn’s disease.

Final diagnosis

Although orbital myositis is a rare extraintestinal manifestation of Crohn’s disease, recognition of this potential association may prompt closer clinical monitoring and facilitate earlier diagnosis when GI symptoms do arise. In this patient, Crohn’s disease was diagnosed following the onset of GI symptoms in conjunction with supportive laboratory and endoscopic evaluations, which confirmed the diagnosis on biopsy report. This case serves as a valuable teaching example, highlighting the importance of considering IBD in patients presenting with orbital myositis or, at a minimum, maintaining vigilance for the development of GI symptoms over time.

Conclusion

Crohn’s disease is a chronic IBD in which extraintestinal manifestations may precede intestinal symptoms. Ocular manifestations, such as orbital myositis, are exceedingly rare as initial presentations. We presented an interesting case of a young female diagnosed with Crohn’s disease who had a history of orbital myositis months prior to the onset of GI symptoms. This case highlights the importance of recognizing the rare but valuable connection between orbital myositis and Crohn’s disease. Increased awareness of this relationship may enable earlier diagnosis and timely initiation of therapy, potentially preventing disease progression or associated complications. Lastly, this case illustrates the significance of a comprehensive diagnostic workup and a multidisciplinary care approach in the management of complex pediatric patients. Clinicians should include IBD in their differential diagnosis of patients presenting with orbital myositis (Supplemental Material).

Supplemental Material

sj-pdf-1-sco-10.1177_2050313X261436111 – Supplemental material for Orbital myositis last year and now Crohn’s disease: A case report of a rare association

Supplemental material, sj-pdf-1-sco-10.1177_2050313X261436111 for Orbital myositis last year and now Crohn’s disease: A case report of a rare association by Alisha Patel, Gabriel Beltran, Nirupma Sharma, Julisa Patel and Kevin Allen in SAGE Open Medical Case Reports