Multisystem Sarcoidosis with Extensive Neurologic, Musculoskeletal, Pulmonary, Lymphatic, and Cutaneous Involvement: A Case Report

Background Sarcoidosis is a multisystemic inflammatory disorder of unknown etiology characterized by noncaseating granulomas in affected areas, prototypically the lungs and hilar lymph nodes. Clinical presentations are heterogenous, often manifesting with constitutional symptoms. [1] Annual incidence rates in Canada have been estimated at 6 - 7 cases per 100 000, with prevalence of approximately 140 - 150 cases per 100 000.[2] Women are more frequently implicated than men, and those of reported Black or Scandinavian ethnicity are also at increased risk. Neurosarcoidosis can occur in 5-26% of patients with systemic sarcoidosis.[1] Cases of neurosarcoidosis are heterogeneous in and of themselves, dependent on the part of the CNS implicated. Cranial neuropathies, meningitis, dural mass lesions, cerebrovascular disease, peripheral neuropathy, and myopathy are examples of manifestations.

Case Report This case involves a 30-year-old gentleman with minimal past medical history, who presented at age 25 to an emergency department with a 12-month history of constitutional symptoms, including nearly 100-pound weight loss, fatigue, night sweats, and fevers. This was accompanied by musculoskeletal features such as mid and lower back pain, peripheral edema, and multifocal skin and soft tissue nodules suspected to be in fitting with diffuse lymphadenopathy. After extensive diagnostic workup, it was found that he had extensive fulminant systemic sarcoidosis, proven with excisional biopsy of a mediastinal lymph node. Also present was osseous involvement of the in the hands, feet, pelvic bones, and vertebral bodies of the thoracic and lumbar spine (Figure 1). He experienced rapid improvement with a tapering course of prednisone, which was completed after a total of 14 months of therapy. Recovery was complicated by a generalized tonic-clonic seizure 1 month after prednisone taper. Investigations yielded neurologic involvement, including parafalcine mass and leptomeningeal sarcoid involvement, as well as involvement of the spinal parenchyma of the thoracic and lumbar spine. Immunosuppression with infliximab and methotrexate (MTX) was initiated. Following 2 years of clinical stability, MTX was discontinued. He continues to experience clinical stability on infliximab infusions every 6 weeks. He had interdisciplinary follow up including with a neuroimmunology clinic. The patient reported feeling back to pre-illness state and is able to function as a caregiver to his young child.

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Figure 1:

Radiographic manifestations of systemic sarcoidosis in this patient. A-C: plain radiographs of bilateral feet and left hand with reticular lacelike lucency thought to represent osseous sarcoidosis, D: plain radiograph of the chest showing bilateral hilar adenopathy, E: MR thoracic spine (sagittal, T1 image) showing multiple irregularly enhancing lesions concerning for osseous (vertebral) sarcoid and cord involvement.

Conclusion This case illustrates the heterogeneity of systemic sarcoidosis, manifesting in this patient predominantly with both neurosarcoidosis and musculoskeletal manifestations. Systemic immunosuppression can be beneficial for cases with severe/ systemic manifestations. Early recognition and multidisciplinary management are critical for outcomes and to prevent irreversible organ dysfunction.

References [1.] Barreras P. J Neuroimmunol 2022;368:577871. [2.] Fidler LM. Eur Respir J 2019;54:1900444.