Atypical presentation of intramedullary neurosarcoidosis as the first manifestation of systemic sarcoidosis: a case report

Introduction and importance: Sarcoidosis is a systemic inflammatory disease affecting multiple organ systems. Intramedullary spinal neurosarcoidosis (NS) is extremely rare, accounting for less than 1% of all cases. It presents substantial diagnostic challenges due to its nonspecific clinical and radiological features, which can mimic a range of other spinal cord disorders. Unlike systemic sarcoidosis, NS may manifest mainly as a neurological condition without systemic symptoms, complicating its identification and management. Case presentation: A 35-year-old male presented with progressive lower limb weakness and neuropathic pain. Initial imaging suggested a diagnosis of transverse myelitis, but further investigation and evaluation revealed an intramedullary lesion at the T6–T8 levels. Surgical removal of the lesion was performed, and a biopsy confirmed the diagnosis of intramedullary spinal NS. The patient subsequently started receiving corticosteroid therapy for long-term immunosuppression. Clinical discussion: The atypical presentation of intramedullary NS without the manifestation of systemic sarcoidosis at the initial evaluation poses diagnostic and therapeutic challenges. MRI findings in NS often resemble those of other demyelinating, neoplastic, or infectious spinal pathologies. Histopathological confirmation remains the gold standard for diagnosis. Treatment typically includes corticosteroids, with more potent immunosuppressive medications considered in refractory cases. Early diagnosis and intervention are crucial for optimizing functional outcomes. Conclusion: This case demonstrates the challenges in detecting patients with intramedullary NS, particularly in the absence of other sarcoidosis systemic symptoms. Advanced imaging, histopathological evaluation, and a multidisciplinary approach are essential for precise diagnosis and effective treatment. These findings emphasize the need for personalized therapeutic strategies when addressing such uncommon presentations and challenges.