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Peer-reviewedCC BY-NC-NDClinical case reports

Unexplained Optic Neuritis and New Heart Block: A Diagnostically Challenging Case of Probable Sarcoidosis.

  1. 1Department of Internal Medicine Carilion Clinic - Virginia Tech Carilion School of Medicine Roanoke Virginia USA.
  2. 2Section of Rheumatology, Department of Internal Medicine Carilion Clinic - Virginia Tech Carilion School of Medicine Roanoke Virginia USA.
  3. 3Section of Cardiology, Department of Internal Medicine Carilion Clinic - Virginia Tech Carilion School of Medicine Roanoke Virginia USA.

Abstract

Sarcoidosis is a systemic inflammatory disease of unknown etiology and manifests in multiple forms. It can affect several organs within the body; however, the lungs and intra-thoracic lymph nodes are involved in the majority of cases. Diagnosis can be challenging due to the diversity of presentation and similarities to other systemic diseases. Although biopsy is often used to confirm the diagnosis, areas of disease involvement can be difficult to access. This case involves a patient with 2 years of unexplained recurrent optic neuritis who presented to the emergency room with a new third-degree heart block. Her optic neuritis had previously responded to high-dose prednisone, but she was unable to achieve steroid-sparing disease control with the addition of rituximab despite receiving it for over a year. Imaging identified areas of nervous system and cardiac inflammation. She had elevated inflammatory markers and soluble IL-2 receptor level suspicious for systemic inflammation. Extensive evaluation for infection and other autoimmune disease was negative. A subsequent PET/CT scan was eventually able to identify lymph node involvement. Probable sarcoidosis remained the leading differential, and a bronchoscopy with endobronchial biopsy was performed 2 weeks later. Unfortunately, the yield was insufficient due to immunosuppression from ongoing steroid use. The patient was able to achieve remission after methotrexate and infliximab were added to her prednisone. Her steroids were tapered off without recurrence of disease activity. High-grade heart block is a well-established manifestation of cardiac sarcoidosis. However, the preceding unexplained optic neuritis in the absence of typical pulmonary involvement or histological confirmation complicated the diagnosis of sarcoidosis. This case highlights the importance of considering sarcoidosis in the differential of multisystemic inflammatory disease and the challenges associated with its diagnosis.

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BibTeX
@article{kamath2026unexplained,
  title = {{Unexplained Optic Neuritis and New Heart Block: A Diagnostically Challenging Case of Probable Sarcoidosis.}},
  author = {Chetan Kamath and Ghassan Al-Qaysi and Hemanta Paudel and Jonathan Saado and Jane Nwaonu},
  journal = {Clinical case reports},
  year = {2026},
  month = nov,
  doi = {10.1002/ccr3.73805},
  url = {https://europepmc.org/article/MED/42997355},
  note = {CC BY-NC-ND},
}
RIS
TY  - JOUR
TI  - Unexplained Optic Neuritis and New Heart Block: A Diagnostically Challenging Case of Probable Sarcoidosis.
AU  - Chetan Kamath
AU  - Ghassan Al-Qaysi
AU  - Hemanta Paudel
AU  - Jonathan Saado
AU  - Jane Nwaonu
PY  - 2026
DA  - 2026/11/06
JO  - Clinical case reports
DO  - 10.1002/ccr3.73805
UR  - https://europepmc.org/article/MED/42997355
AB  - Sarcoidosis is a systemic inflammatory disease of unknown etiology and manifests in multiple forms. It can affect several organs within the body; however, the lungs and intra-thoracic lymph nodes are involved in the majority of cases. Diagnosis can be challenging due to the diversity of presentation and similarities to other systemic diseases. Although biopsy is often used to confirm the diagnosis, areas of disease involvement can be difficult to access. This case involves a patient with 2 years of unexplained recurrent optic neuritis who presented to the emergency room with a new third-degree heart block. Her optic neuritis had previously responded to high-dose prednisone, but she was unable to achieve steroid-sparing disease control with the addition of rituximab despite receiving it for over a year. Imaging identified areas of nervous system and cardiac inflammation. She had elevated inflammatory markers and soluble IL-2 receptor level suspicious for systemic inflammation. Extensive evaluation for infection and other autoimmune disease was negative. A subsequent PET/CT scan was eventually able to identify lymph node involvement. Probable sarcoidosis remained the leading differential, and a bronchoscopy with endobronchial biopsy was performed 2 weeks later. Unfortunately, the yield was insufficient due to immunosuppression from ongoing steroid use. The patient was able to achieve remission after methotrexate and infliximab were added to her prednisone. Her steroids were tapered off without recurrence of disease activity. High-grade heart block is a well-established manifestation of cardiac sarcoidosis. However, the preceding unexplained optic neuritis in the absence of typical pulmonary involvement or histological confirmation complicated the diagnosis of sarcoidosis. This case highlights the importance of considering sarcoidosis in the differential of multisystemic inflammatory disease and the challenges associated with its diagnosis.
SN  - 2050-0904
ER  -