Neurosarcoidosis masquerading as recurrent tumefactive demyelinating-appearing brain lesions: An 8-year diagnostic odyssey

Abstract

Background

Neurosarcoidosis is a rare inflammatory condition that can occasionally present with recurrent tumefactive lesions resembling those of idiopathic demyelinating diseases. Diagnosis is frequently delayed because clinical and radiological features overlap with demyelinating disorders, and systemic signs may initially be absent.

Case presentation

We report a woman who first presented at 23 years of age with a tumefactive demyelinating-appearing brain lesion and, eight years later, experienced recurrence with new involvement of the brain and spinal cord. The second episode featured a new tumefactive demyelinating-appearing brain lesion, longitudinally extensive transverse myelitis, vertebral enhancement, and systemic manifestations. Imaging revealed mediastinal lymphadenopathy and multiple hypodense lesions in the liver and spleen, while histopathologic examination of a mediastinal lymph node demonstrated noncaseating granulomas, confirming sarcoidosis.

Conclusion

To our knowledge, this is the first detailed report of neurosarcoidosis evolving from an initially isolated tumefactive demyelinating-appearing brain lesion to a later episode characterized by recurrent brain involvement with simultaneous spinal and systemic disease after a prolonged asymptomatic interval. Clinicians should consider neurosarcoidosis in the differential diagnosis of tumefactive demyelinating-appearing brain lesions, particularly when an initially isolated presentation is followed by subsequent brain, spinal, and systemic involvement, even in young patients without systemic features at onset.