Pediatrics
Ashlyn Fairchild, DO
Resident
Baylor College of Medicine
Allen, Texas, United States
Case Samford, DO
Resident
Christus Health
San Antonio, Texas, United States
William Whitmire, DO
Resident
University of Texas at Austin Dell Medical School
Austin, Texas, United States
Ashlyn Fairchild, DO
Baylor College of Medicine
Allen, Texas, United States
Sjögren’s syndrome presenting with optic neuritis in 14-year-old female
Case Description:
A 14-year-old female with an unspecified autoimmune condition, Raynaud’s phenomenon, and protein-losing enteropathy presented to the ED with acute blurry vision, significantly limiting her visual field. MRI brain/orbits revealed generalized enlargement and hyperintense signal of the optic chiasm consistent with optic neuritis, so she was admitted. Notably, during a previous admission without visual involvement, SSA and SSB antibodies were negative. Repeat testing during this admission showed a mildly positive SSA (50 AU/mL; normal < 40 AU/mL), strongly positive RNP and ANA titers, and no evidence of cardiac, renal, or hepatic involvement. NMO serum and MOG antibodies were negative. She was diagnosed with Sjögren’s syndrome. Treatment included high-dose Solu-Medrol and rituximab infusions, resulting in improved vision. She was discharged on a prednisone taper and scheduled for continued rituximab and neuro-ophthalmology follow-up.
Discussions:
Optic neuritis is a rare initial manifestation of Sjögren’s syndrome, an autoimmune disease more commonly associated with exocrine gland dysfunction. While optic neuritis can also occur in systemic lupus erythematosus, its association with Sjögren’s is infrequently reported, especially in pediatric patients. This case highlights the importance of considering multiple autoimmune etiologies in pediatric optic neuritis, particularly when accompanied by systemic features such as Raynaud’s and protein-losing enteropathy. Early recognition and immunosuppressive therapy are critical for visual recovery and prevention of further neurological sequelae. The patient’s positive response to rituximab and corticosteroids underscores the role of targeted immunotherapy in severe autoimmune neuro-ophthalmic presentations.
Conclusions:
This case demonstrates the importance of a multidisciplinary approach in pediatric patients with complex autoimmune presentations and neurological involvement. For PM&R specialists, awareness of rare neuro-ophthalmic manifestations of autoimmune disease is essential for comprehensive functional assessment and rehabilitation planning. Early intervention and tailored rehabilitation strategies can optimize visual and functional outcomes, supporting long-term quality of life in this population.
